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P020A Developmental Disabilities Lecture #3

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1 P020A Developmental Disabilities Lecture #3
Mrs. keele

2 Course Content # 17 Explain the important role of genetic counseling.

3 Genetic Counseling Issues related to inherited disorders
Genetic counseling is the process, by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects.[1] The National Society of Genetic Counselors (NSGC), founded and incorporated in 1979,[1] is the largest association of genetic counselors in the world. Its membership includes genetic counselors and other health care professionals working in the field of medical genetics from the United States, Canada, and around the world. The NSGC's stated Vision is to be the leading voice, authority and advocate for the genetic counseling profession. Its stated Mission is to advance the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.[1] A similar association, the Canadian Association of Genetic Counselors, exists for those genetic counselors who are currently practicing in Canada.[2] Counselors may belong to one or both of the CAGC and NSGC.

4 Prenatal testing Ultrasound sonography Sound waves  images
Detect structural abnormalities Uses very high frequency sound waves to detect structual abnormalities or multiple pregnancies, measures fetal growth, judge gestational age, and evaluate uterine abnormalities. Also used as an adjunct to other procedures, such as amniocentesis

5 Prenatal Testing Amniocentesis amniotic fluid + fetal cells
Done between the 15 – 20 weeks of pregnancy. This procedure examins a sample of amniotic fluid which contains fetal cells. Recommended if either parent carreid Tay Sachs, spina bifida, down syndrom, muscular dystrophy or Rh disease

6 Prenatal testing Fetal Blood Sampling (FBS)
Detect chromosomal abnormalities Preformed after 18 weeks of pg by collecting a small amount of blood from the umbilical cord for testing. Used to detect Down syndrome and most other chromosome abnormalities in the fetus of coupled who are at increased risk of having an affected child. Many other diseases can be diagnosed using this technique.

7 Screening for future problems
DNA – based genetic tests Newest role of genetic counselors invbolves testing people to identify whether they themselves, rather than their chidlren are susceptable to future disorders because of genetic abnormalites. AKA Huntington’s disease – can let them know whether they carry the flaw gene and help them prepare. More than 1000 disorders can be predicted on the basis of genetric testing Although such testing may bring welcomed relief from future worries, if the results are negative, positive results may produce just the opposite effect. In fact, testing raises difficult practical and ethical questions. Huntingtons – if you have the gene you get it – but most disease are not simple yes or no, but rather increases susceptibility to the disorder. Multiple variables.

8 Angelina Jolie fallout: Should counseling be required with DNA screenings? Jon Entine | May 28, 2013 | Genetic Literacy Project The decision by Angelina Jolie to undergo a double mastectomy after tests determined she carried a genetic mutation that elevated her chances of developing breast or ovarian cancer has led to renewed calls for expanded genetic screening. It has also raised a disconcerting question—could genetic testing actually be harmful to your health? The decision by Angelina Jolie to undergo a double mastectomy after tests determined she carried a genetic mutation that elevated her chances of developing breast or ovarian cancer has led to renewed calls for expanded genetic screening. It has also raised a disconcerting question—could genetic testing actually be harmful to your health? On May 14, cinema super-star Angelina Jolie announced that she’d had a double mastectomy to prevent the family scourge of breast cancer. With a courageous and medically explicit discussion of her odds and her “medical choice” to remove both breasts, Jolie splashed the issues of cancer prevention and genetic testing for cancer across the front pages. Jolie explained her decision in the New York Times: “I am writing about it now because I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.” About 10 percent of breast cancers have a genetic component, and two mutations, called BRCA1 and BRCA2, greatly increase the lifetime risk of breast, uterine and other cancers. The BRCA genes normally suppress tumors by repairing broken DNA; when the gene is mutated, both suppression and repair may fail. By itself, the BRCA1 mutation raises the lifetime odds of breast cancer to about 65 percent, about five times the U.S. average. The odds are higher if, as in Jolie’s case, many relatives have the cancer.

9 Some DNA-based genetic tests
Adult polycystic kidney disease Alpha 1-antitrypsin deficiency Alzheimer’s disease Amyotrophic lateral sclerosis Ataxic telangiectasia Breast & ovarian cancer Charcot-Marie-Tooth Congenital adrenal hyperplasia Cystic fibrosis Duchenne muscular dystrophy Adult polycystic kidney disease – kidney failure and liver disease Alpha 1-antitrypsin deficiency – emphysema and liver disease Alzheimer’s disease- late onset variety of senile dementia Amyotrophic lateral sclerosis – Lou Gehrig disease, progressive motor function loss leading to paralysis and death Ataxic telangiectasia – progressive brain disorder resulting in loss of muscle control and cancer Breast & ovarian cancer – early onset tumors of breast and ovaries Charcot-Marie-Tooth- loss of feeling in the ends of limbs Congenital adrenal hyperplasia – hormone deficiency, ambiguous genitalia and male pseudohermaphroditism Cystic fibrosis – thick mucus accumulations in lungs and chronic infections in longs and pancreas Duchenne muscular dystrophy – severe to milk muscle wasting, deterioration, weakness

10 Some DNA-based genetic tests
Dystonia Fragile X syndrome Gaucher disease Hemophilia Colon Cancer Huntington’s disease Myotonic dystrophy Neurofibromatosis Phenylketonuria Prader Willi / Angleman syndromes Sickel-cell disease Spinocerebellar ataxia Tay-Sachs disease Thalassemias Dystonia – muscle rigidity, repetitive twisting movement Fragile X syndrome – mental retardation Gaucher disease- enlarged liver and spleen, bone degeneration Hemophilia – bleeding disorders Colon Cancer – 1 type of early onset tumors Huntington’s disease – progressive neurological degeneration usually beginning in midlife Myotonic dystrophy – progressive muscle weakness Meurofibromatosis – Type 1 multiple benign nervous system tumors that can be disfiguring, cancer Phenylketonuria – progressive cognitive impairment due to missing enzyme, correctable by diet Prader Willi / Angleman syndromes – decreased motor skills, cognitive impairment, early death Sickel-cell disease – blood cell disorder chronic pain and infedtions Spinocerebellar ataxia – involuntary muscle movement, reflex disorders, explosive speech Tay Sachs diseaseSeizures, paralysis, fatal neurological disease of early childrhood Thalassemias - anemia

11 Course content #18 Identify the various morphological features commonly seen in the D.D. client Head & face Eyes Extremities

12 Head Circumference One of the first things to assess when evaluating the head of the newborn is the Occipital Frontal Circumference (OFC). This simple measurement may be the first clue to an underlying problem. The 50th percentile for OFC of a term newborn is 34 cm, so for the infant above who had a normal weight and length for a term infant (near 50th %ile for age), a measurement of 30.5 cm is strikingly abnormal (<< 10th %ile for age). Further evaluation is indicated here; head imaging, screening for TORCH infection, and assessment for chromosomal abnormalities should all be considered.

13 Microcephaly i head circumference
Microcephaly is a neurodevelopmental disorder. It is an important neurologic sign but there is nonuniformity in the definition of microcephaly. It is usually defined as a head circumference (HC) more than 2 standard deviations below the mean for age and gender.[1][2] Some academics advocate defining it as head circumference more than 3 standard deviations below the mean for the age and sex.[3] Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. A homozygous mutation in one of the microcephalin genes causes primary microcephaly.

14 Unusual hair whorls Normally, because the growth of the brain occurs in a predictable fashion, there is one primary hair whorl over the vertex of the head. When hair whorls are multiple or in unusual locations, abnormal brain growth may be a causative factor. In this infant, a hair whorl can be seen behind the right ear, and the rest of the hair appears unruly, with a variety of directions of growth. Trisomy 13 was the underlying diagnosis.

15 Normal ear Many variations in size and shape exist within the label of "normal ear", but in general, the normal ear is one is which all the structures (helix, antiehelix, tragus, antitragus, scaphoid/triangular fossa, and external auditory canal) are all present and well formed.

16 Microtia Underdeveloped pinna
Microtia is a congenital deformity where the pinna (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia.[1] Microtia can be unilateral (one side only) or bilateral (affecting both sides). Microtia occurs in 1 out of about 8,000–10,000 births. In unilateral microtia, the right ear is most commonly affected. It may occur as a complication of taking Accutane (isotretinoin) during pregnancy.[2] Perhaps one of the better-known people to suffer from (Grade III) microtia is KISS guitarist and frontman Paul Stanley.In contrast to the previous photos, this pinna is not well-formed and is smaller than a normal ear. This is microtia, class II. Hearing evaluation is mandatory in these infants and referral to a pediatric ENT specialist is recommended. Fortunately, this infant was found to have normal hearing. Elective cosmetic repair was planned for a later date.

17 Microtia Here is another example of microtia. This infant was also diagnosed with class 2 microtia, which was additionally labelled "locked ear deformity". The internal structures of the ear were normal, and apart from bilateral ear abnormalities, the remainder of the physical examination, and a renal ultrasound, were normal.

18 Microtia This microtia is more severe than the previous examples. This is lobular microtia, class 3, with atretic ear canal. In this case, no external ear canal could be appreciated on physical exam, and the pinna appeared very poorly developed. As might be expected, the child failed hearing screening testing in this ear. Approximately half of all babies with microtia will have an underlying congenital syndrome, so careful assessment for associated abnormalities (in addition to hearing loss) should be undertaken.

19 Hypoplastic ear Here is another infant with auricle malformation. The ear is hypoplastic and low set. Again, because genetic syndromes are frequently associated with abnormal ear shapes, a careful physical examination should be performed. Even in the absence of other findings, referral to a pediatric ENT specialist may be indicated, as an abnormal pinna may be an indicator of internal ear abnormalities.

20 Low set ear Low set ear hypoplastic
Here, the low set position of the ear (also hypoplastic) can be appreciated. If an imaginary line is drawn from the outer canthus of the eye straight back to the occiput (here the occiput is just where the edge of the blanket meets the head), a low set ear will fall completely below the line. An ear with normal set will cross or touch the same line. This infant had trisomy 18 as an underlying etiology.

21 Ear Placement Low set ears Posteriorly rotated
Ear Placement Images A show normal ear position. Low set ears are positioned below the horizontal line as illustrated in B. Low-set ears are often posteriorly rotated, reflecting an arrest in the normal anterior rotation that occurred during fetal ear development.

22 Micrognathia Small jaw
Micrognathia, or "small jaw", can often be best appreciated when looking at the profile of the infant. While many infants may appear to have a slightly recessed chin, the appearance above is clearly abnormal. Underlying genetic conditions should be considered in cases such as this; there are quite a few chromosomal conditions associated with this finding.

23 Micrognathia Small lower jaw
Micrognathia is a term for a lower jaw that is smaller than normal.

24 Prognathia Maxilla or mandible is forward of the skull
Prognathia, or prognatism, is a condition where either the maxilla or the mandible is positioned forward to the front compared to a normal position on the skull. It's a term mostly used in orthodontics and oral and maxillofacial surgery because prognatia can cause malocclusion, where the upper and lower jaws are not well aligned.

25 Hydrocephaly AKA D/t Water on the brain” h CSF  h I-ICP  …
Hydrocephalus[a] /ˌhaɪdrɵˈsɛfələs/, also known as "water on the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, tunnel vision, and mental disability. Hydrocephalus can also cause death. Although it does occur in older adults, it is more common in infants.[2]

26 Scaphocephaly Long, narrow head
Scaphocephaly (Pronunciation: skaf-O-sef-aly), derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head[1] that resembles an inverted boat. It is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. The sagittal suture joins together the two parietal bones of skull. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head.

27 Eyes Edema Most infants exhibit some degree of eyelid edema after birth. The puffiness may make it seem that the infant has difficulty opening one or both eyes, but with a gentle examination, the eye can be easily evaluated. Edema resolves over the first few days of life.

28 Dysconjugate eye movement
Eyes appear to move independently During the first few months of life, newborns will frequently have dysconjugate eye movements, where the eyes appear to move independently. Eyes may transiently appear crossed or divergent. This phenomena is particularly noticeable when the infant is falling asleep or being woken from sleep. If the dysconjugate movement is fixed (one eye is always out, or always in, relative to the other), a pediatric ophthalmologist should be consulted. But if the movements are transient, it is a normal finding and will spontaneously resolve.

29 Epicanthal fold extending above the inner canthus
Epicanthal folds Epicanthal fold extending above the inner canthus Epicanthic fold,[1] epicanthal fold, epicanthus, or simply eye fold[2] are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis[3] and palpebronasal fold.[4] One of the primary facial features often closely associated with the epicanthic folds is the nasal bridge; all else equal, a lower-based nose bridge is more likely to cause epicanthic folds, and a higher-based nose bridge is less likely to do so.[5] There are various factors influencing whether someone has epicanthic folds, including geographical ancestry, age, and certain medical conditions. An epicanthal fold is skin of the upper eyelid that covers the inner corner of the eye.  The fold runs from nose to the inner side of the eyebrow.   Considerations An epicanthal fold is normal in people of Asian descent. An epicanthal fold is also common in children with Down syndrome. Epicanthal folds may be seen in young children of any race before the bridge of the nose begins to rise. Causes Epicanthal folds may be normal for people of Asiatic descent and some non-Asian infants. However, it may also be due to certain medical conditions, including: Down syndrome Fetal alcohol syndrome Turner syndrome Phenylketonuria (PKU) Williams syndrome Noonan syndrome Rubinstein-Taybi syndrome Blepharophimosis syndrome

30 Ptosis Dropping eye lid
Ptosis /ˈtoʊsɪs/ (from Greek Ptosis or πτῶσις, to "fall") is a drooping or falling of the upper or lower eyelid. The drooping may be worse after being awake longer, when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism. This is why it is especially important for this disorder to be treated in children at a young age, before it can interfere with vision development.

31 Anisocoria Unequal pupil size
Anisocoria is unequal pupil size. The pupil is the black part in the center of the eye. It gets larger in dim light and smaller in bright light.

32 Exophthalmos Bulging eyes D/T edema
When there is an increase in the volume of the tissue behind the eyes, the eyes will appear to bulge out of the face. The terms exophthalmos and proptosis apply. Proptosis can refer to any organ that is displaced forward, while exophthalmos refers just to the eyes.

33 Strabismus / heterotropia
AKA Cross-eyes Eyes are not aligned Strabismus (/strəˈbɪzməs/, from Greek strabismós[1]), also known as heterotropia (and including the two variants cross-eye and walleye),[2] is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and thus hampers proper binocular vision, and which may adversely affect depth perception. Strabismus can present as manifest (heterotropia) or latent (heterophoria) varieties, and can be either a disorder of the brain in coordinating the eyes, or of the power or direction of motion of one or more of the relevant muscles moving the eye. Strabismus is primarily managed by ophthalmologists, optometrists and orthoptists. Strabismus is present in about 4% of children. Treatment should be started as soon as possible to ensure the best possible visual acuity[3][4] and stereopsis.

34 Setting sun

35 Nystagmus AKA “Dancing eye’s” Nystagmus /nɪˈstæɡməs/ is a condition of involuntary[1] eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.[2] Due to the involuntary movement of the eye, it is often called "Dancing Eyes".[3][a] When the head rotates about any axis, distant visual images are sustained by rotating eyes in the opposite direction on the respective axis.[4] The semicircular canals in the vestibule sense angular momentum. These send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one’s gaze to fixate on one object as the head moves. Nystagmus occurs when the semicircular canals are being stimulated while the head is not in motion. The direction of ocular movement is related to the semicircular canal that is being stimulated.[5]

36 Ocular Hypertelorism h distance between the eyes
Hypertelorism, derived from the Greek word "telouros" (meaning distant), is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes)--orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but that of the outer eye corners remains unchanged.[1] Therefore the distance between the pupils is normal. Ocular Hypertelorism

37 Palpebral slant mongoloid slant
Definition The palpebral slant is the direction of the slant of a line drawn from the outer corner of the eye to the inner corner. Alternative Names Mongolian slant Source: Palpebral slant - eye | University of Maryland Medical Center University of Maryland Medical Center Follow on Twitter | MedCenter on Facebook

38 Normal hand Crease Most newborns have two major creases on the palm, neither of which completely extend from one side of the palm to the other.

39 Transverse Palmar Crease
Old term “Simian crease” A common variant, found in approximately 5% of newborns, a transverse palmar crease is frequently inherited as a familial trait. Although single palmar creases are also associated with Down's syndrome and other genetic disorders, the absence of other abnormalities on physical exam should reassure the examiner that no further evaluation is necessary. imian crease this page to a friendShare on facebookShare on twitterBookmark & SharePrinter-friendly version A simian crease is a single line that runs across the palm of the hand. People usually have three creases in their palms. The term "simian crease" is not used much anymore since it tends to have a negative meaning (it refers to monkey or ape). The crease is usually just referred to as a single palmar crease. Considerations Strong lines (called palmar flexion creases) appear on the palms of the hands and soles of the feet. The palm usually has three of these creases. But sometimes, the horizontal creases join together to form a single one. Palmar creases develop while the baby is growing in the womb, usually by the 12th week of gestation. A single palmar crease appears in approximately 1 out of 30 people. Males are twice as likely as females to have this condition. Some palmar creases indicate problems with development and are associated with disorders like Down syndrome.

40 Edema of the Feet In this infant, the feet and lower legs seem unusually puffy. Although edema in general has a long list of possible etiologies, it is helpful to begin by determining if the edema is generalized or localized. Edematous hands and feet in particular are known to be associated with Turner's syndrome in infancy, so this diagnosis should be considered in girls with this finding. In this case, Turner's syndrome was the underlying etiology.

41 Edema of the Feet Here is an example of lymphedema of the feet as a result of Turner's syndrome. From this angle, the excessive puffiness behind the toes can be easily seen. Chromosomal testing confirmed the clinical diagnosis Here is another baby with edematous feet as a result of Turner's syndrome. From this angle, the excessive puffiness behind the toes can be easily seen.

42 Sandal Gap Deformity Increase gap between great and 1st toe
Another physical finding in many infants with Down's syndrome is an increased gap between the great and first toes. While this finding can occur as a familial trait, when it occurs in constellation with other features of Down's, it supports the diagnosis.

43 Sandal Gap Deformity Viewed from the plantar surface, the gap between the toes is even more noticeable

44 Syndactyly Two or more digits are fused together
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics.[1] Linguistically, "acro" is Greek for "peak", referring to the "peaked" head that is common in the syndrome. "Cephalo", also from Greek, is a combining form meaning "head". "Syndactyly" refers to webbing of fingers and toes. Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.

45 Pes planus AKA “Flat foot”
Flat feet (also called pes planus or fallen arches) is a formal reference to a medical condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground. In some individuals (an estimated 20–30% of the general population) the arch simply never develops in one foot (unilaterally) or both feet (bilaterally). There is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg. The arch provides an elastic, springy connection between the forefoot and the hindfoot. This association safeguards that a majority of the forces incurred during weight bearing of the foot can be dissipated before the force reaches the long bones of the leg and thigh. [1] In pes planus, the head of the talus bone is displaced medially and distal from the navicular. As a result, the spring ligament and the tendon of the tibialis posterior muscle are stretched, so much so that the individual with pes planus loses the function of the medial longitudinal arch (MLA). If the MLA is absent or nonfunctional in both the seated and standing positions, the individuals has “rigid” flatfoot. If the MLA is present and function while the individual is sitting or standing up on their toes, but this arch disappear when a foot-flat stance, the individual has “supple” flatfoot. This latter condition can be correctable with well-fitting arch supports.[1] Three studies (see citations below in military section) of military recruits have shown no evidence of later increased injury, or foot problems, due to flat feet, in a population of people who reach military service age without prior foot problems. However, these studies cannot be used to judge possible future damage from this condition when diagnosed at younger ages. They also cannot be applied to persons whose flat feet are associated with foot symptoms, or certain symptoms in other parts of the body (such as the leg or back)

46 Talipes equinus AKA Club foot Definition of TALIPES EQUINUS
: a congenital deformity of the foot in which the sole is permanently flexed so that walking is done on the toes without touching the heel to the ground Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth. Causes Clubfoot is the most common congenital disorder of the legs. It can range from mild and flexible to severe and rigid. The cause is not known, but the condition may be passed down through families in some cases. Risk factors include a family history of the disorder and being male. The condition occurs in about 1 out of every 1,000 live births.

47 Pectus excavatum AKA Funnel chest
Pectus excavatum (a Latin term meaning hollowed chest)[1] is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest.[2] It can either be present at birth or not develop until puberty. Pectus excavatum is sometimes considered to be cosmetic; however, depending on the severity, it can impair cardiac and respiratory function and cause pain in the chest and back.[3] People with the condition may experience negative psychosocial effects, and avoid activities that expose the chest.[4] Pectus excavatum is sometimes referred to as cobbler's chest, sunken chest, or funnel chest.[5][6]

48 Hypotonia The assessment of tone can be made both from observing the posture and activity of the infant when undisturbed and also by handling the baby. Infants with normal tone will not feel "floppy" when held by the examiner. The infant in the photo above is hypotonic. When this baby was lifted, the examiner had to give much more support to the head and shoulders than is usual to keep the infant from sliding our of her hands. Notice how the both arms fall back (instead of being held in flexion), and the baby's chest seems to drape over the physician's hand.

49 Hypotonia Here is the same infant held in ventral suspension. Normally newborns do have a convex curvature of the spine in this position, but not to this degree. Here the head drops much lower than one would expect, and the examiner has the sense that the infant could easily slip out of her hand without extra support. In this case, the hypotonia was caused by trisomy 21.

50 What is this? Sydactyly Hypotonia

51 Course Content #19 Differentiate between the following types of abnormal cell divisions Non-disjunctive Crossing over Translocation

52 Abnormal cell division
Non-disjunctive Failure of the chromosome to separate properly An error that can occur during meiosis or mitosis in which both homologous chromosomes of a pair move to the same side of the dividing cell. One daughter cell receives two copies of this chromosome and the other daughter cell receives none. Non-disjunction("not coming apart") is the failure of chromosomepairs to separate properly duringmeiosis stage 1 or stage 2, specifically in the anaphase. This could arise from a failure ofhomologous chromosomes to separate in meiosis I, or the failure of sister chromatids to separate during meiosis II or mitosis. The result of this error is a cell with an imbalance of chromosomes. Such a cell is said to be aneuploid. Loss of a single chromosome (2n-1), in which the daughter cell(s) with the defect will have one chromosome missing from one of its pairs, is referred to as amonosomy. Gaining a single chromosome, in which the daughter cell(s) with the defect will have one chromosome in addition to its pairs is referred to as a trisomy. In the event that an aneuploidic gamete is fertilized, a number of syndromes might result. The only known survivable monosomy is Turner syndrome, where the individual is monosomic for the X chromosome. Examples of trisomies include Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).

53 Crossing-over Not an abnormal cell division Occurs only in Allows for
Meiosis Allows for Diversity

54 Abnormal cell division
Translocation During crossing-over part of the chromosome breaks off and attached to another chromosome

55 Abnormal cell division
Most incompatible with life  Spontaneous abortion Most happen spontansiously and sporadically Not truly inherited – parent does not PASS it on

56 Course Content #20 Describe the main features seen in the following autosomal disorders: Downs Syndrome Edward’s Syndrome (Trisomy 18) Patau Syndrome (Trisomy 13 – 15) Cri Du Chat Syndrome Prader-Willi Syndrome Angelman Syndrome*

57 Disorder of Non-Sex Chromosome
Autosomal Disorders Downs Syndrome Edward’s Syndrome Patau Syndrome Cri Du Chat Syndrome Prader-Willi Syndrome Angelman Syndrome* Disorder of Non-Sex Chromosome

58 Down Syndrome AKA Trisomy 21 Mongolism

59 Down syndrome Associated with Older mothers >35
The most recent study by the Centers for Disease Control and Prevention (CDC) and the National Birth Defects Prevention Network updates national statistics regarding the prevalence of Down syndrome in the U.S. The study indicates that there are about 6,000 diagnoses of Down syndrome each year in the United States. One in every 691 babies is born with Down syndrome. This is an increase from the previously reported statistic of 1 in every 733. Based on the study, the National Down Syndrome Society (NDSS) cites this prevalence estimate on its website and other materials. - See more at:

60 Down Syndrome Detected through pre-natal screening

61 Down Syndrome Common Features
Mild-severe ID

62 Down Syndrome Short stature

63 Down Syndrome Common Features
Mongoloid eye slant

64 Down Syndrome Common Features
Epicanthal Folds

65 Down Syndrome Common Features
Brushfield spots White or gray spots on the edge of the iris Brushfield spots are small white or grayish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue, a normal iris element. The spots are named after the physician Thomas Brushfield, who first described them in his 1924 M.D. thesis.[1] These spots are normal in children (Kunkmann-Wolffian bodies) but are also a feature of the chromosomal disorder Down syndrome. They occur in 35–78% of newborn infants with Down syndrome.[2] They are much more likely to occur in children with Down syndrome of the Caucasian race than children of Asian heritage with Down's Syndrome.[3] They are focal areas of stromal hyperplasia, surrounded by relative hypoplasia and are more common in patients with lightly pigmented irises.[citation needed]

66 Down Syndrome Common Features
Protruding fissured tongue, open mouth

67 Down Syndrome Common Features
Small, flattened skull

68 Down Syndrome Common Features
Transverse palmar crease

69 Down Syndrome Common Features
Transverse palmar crease

70 Deceased transverse palmar Crease

71 Down Syndrome Common Features
Short, broad hands with clinodactyly Clinodactyly is a medical term describing a bend or curvature of the fifth fingers (the "little fingers") toward the adjacent fourth fingers. It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in many genetic syndromes, such as Russell-Silver syndrome, Feingold syndrome and in approximately 80%[1] of individuals with Down syndrome. When identified in prenatal ultrasound, it is considered statistically correlated with increased risk of chromosome aberration in the fetus and may be an indication for intrauterine sampling for fetal chromosome analysis. It is also common in Fetal Alcohol Spectrum Disorder. The term can also be used to describe curled toes. Clinodactyly or congenital curly toes, is sometimes seen in the third, fourth or fifth toe and is "fairly common and follows a familial pattern." [2]

72 Down Syndrome Common problems
Upper respiratory infections Cardiac abnormalities GI/feeding problems Speech/language difficulty Behavior problems Vision/hearing problems

73 Down Syndrome Common treatments
Speech tx Special ed. Behavior mod. Corrective surgery Corrective lens / heading aids Cardiac / resp. meds

74 Edward’s Syndrome AKA Extra chromosome 18 Identified in 1960
Trisomy 18 Extra chromosome 18 Identified in 1960 -identified in 1960 -extra chromosome 18 -poor life expectancy (50% die by one week of age)

75 Edward’s Syndrome Incidence
1:3000 newborns 3 X more girls than boys Older mother Poor life expectancy (50% die by one week of age) -identified in 1960 -extra chromosome 18 -poor life expectancy (50% die by one week of age) Edwards syndrome (also known as Trisomy 18 [T18]) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. This genetic condition almost always results from nondisjunction during meiosis. It is named after John Hilton Edwards, who first described the syndrome in 1960.[1] It is the second most common autosomal trisomy, after Down syndrome, that carries to term. Edwards syndrome occurs in around one in 6,000 live births and around 80 percent of those affected are female.[2] The majority of fetuses with the syndrome die before birth.[2] The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

76 Edward’s Syndrome Common Features
ID Children born with Edwards syndrome may have some or all of the following characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).[3][4]

77 Edward’s Syndrome Common Features
ID Microcephaly Prominent occiput Micrognathia Ocular Hypertelorism Ptosis Low set ears Children born with Edwards syndrome may have some or all of the following characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).[3][4] Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes; clubfoot or Rocker bottom feet; and in males, undescended testicles. n utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities. The most common intracranial anomaly is the presence of choroid plexus cysts, which are pockets of fluid on the brain. These are not problematic in themselves, but their presence may be a marker for trisomy 18.[5][6] Sometimes excess amniotic fluid or polyhydramnios is exhibited.[ The occiput is the anatomical term for the posterior (back) portion of the head or skull. In insects, the occiput is the posterior part of the head capsule. The word occipital pertains to the occiput.[1]

78 Edward’s Syndrome Common features
Umbilical hernia Undescended testes Children born with Edwards syndrome may have some or all of the following characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth). Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes; clubfoot or Rocker bottom feet; and in males, undescended testicles. -short neck/webbing of the neck -low birth weight -congenital heart disease -umbilical hernia -micrognathia -undescended testes

79 What is the medical term for an undescended testicle?
Hypotesticularism Onycholysis Cryptorchidism Microtesticulation Prolapsed testicle

80 Edward’s Syndrome Common features
Clenched hands; Underdeveloped thumbs and or nails, webbing of the second and third toes

81 underdeveloped thumbs
clenched hands; underdeveloped thumbs Hands of a fetus with Edwards syndrome. Note that fetus typically presents with overlapping digits with the second and fifth fingers overriding the third and fourth fingers respectively. Overall posturing of the wrists and fingers suggests contractures.

82 Edward’s Syndrome Clubfoot Web toes
Note a rocker-bottom foot with prominent calcaneus.

83 Edward’s Syndrome Common problems
Hypertonia or hypotonia Seizures Cardiac abnormalities Deafness Few live beyond 1 year

84 Edward’s Syndrome Treatment Modalities
Anti-convulsant Supportive care

85 Patau’s Syndrome AKA Trisomy 13 1st identified Incidence 1960
Patau, et al. Incidence 1:7600 newborns

86 Patau’s Syndrome Common Features
Polydactly Seizures Deafness Microcephaly Midline cleft lip / palate Abnormal ears, sloping forehead Cardiac and renal anomalies

87 Patau’s Syndrome Common problems
Poor life expectancy poor life expectancy -50% die by one month of age -70% die by one year Bailey is 2 ½ years in this picture. Note the low set eats

88 Patau’s Syndrome Common treatment
Supportive care -no specific treatment -supportive care -family grief counseling

89 Cri du chat syndrome AKA
Cat Cry Syndrome Short arm of #5 chromosome undergoes partial deletion F > M Incidence 1:20,000-1:50,000 CRY AKA Cat Cry Syndrome Short arm of #5 chromosome undergoes partial deletion F > M most often in females -incidence 1:20,000-1:50,000

90 Cri du chat syndrome Common Features
High-pitched cry low birth weight Microcephaly Hypotonia Hypertelorism Cardiac defects Palpebral slant high-pitched cry sounds like a cat -low birth weight and slow growth -microcephaly, hypotonia -hypertelorism, cardiac defects -palpebral fissures, slanted eyes

91 Cri du chat syndrome Common features
Micrognathia Small head, low-set ears Webbing of fingers or toes Trans-palmer crease -Micrognathia Small head, low-set ears (may be malformed) -partial webbing or fusing of fingers or toes -Simian crease

92 Cri du chat syndrome Common problem
Severe ID (IQ < 50) Sufficient verbal skills 50% Self care deficit -severe MR is the norm (IQ < 50) -50% will develop sufficient verbal skills -lack ability to care for self -most die before adulthood

93 Cri du chat syndrome Common treatment
Special ed. SLP Counseling What a person can do is more important than what they can’t do. -special education -speech therapy -family counseling -genetic counseling for parents -self care training

94 Prader-willi syndrome
1st described 1887 Deletion on father’s chromosome 15 Incidence 1:12,000-15,000 -first described 1887 by Down -Syndrome named in 1956 -deletion on father’s chromosome 15 -rarely inherited; 90% new mutation -inc. 1:12,000-15,000 Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.  PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage (“thriving too well”), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues.

95 Prader-Willi Syndrome Common Features
M = F ID Ave IQ: 70 -most often males -IQ 20-85; average IQ 70 -if normal IQ, have learning disabilities -short, generalized obesity, moon-shaped face, almond-shaped eyes,hypotonia micrognathia, under-developed sex organs; bizarre eating patterns

96 Prader-Willi Syndrome Common Features
Under-developed sex organs Ineffective eating patterns -most often males -IQ 20-85; average IQ 70 -if normal IQ, have learning disabilities -short, generalized obesity, moon-shaped face, almond-shaped eyes,hypotonia micrognathia, under-developed sex organs; bizarre eating patterns The following common characteristics of individuals with PWS raise suspicion of the diagnosis. Published diagnostic criteria include supportive findings and a scoring system (Holm et al, Pediatrics 91, 2, 1993).  Neonatal and infantile central hypotonia, improving with age Feeding problems and poor weight gain in infancy Excessive or rapid weight gain between 1 and 6 years of age; central obesity in the absence of intervention Distinctive facial features—dolichocephaly in infants, narrow face/bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip and down-turned corners of mouth Hypogonadism—genital hypoplasia, including undescended testes  and small penis in males; delayed or incomplete gonadal maturation and delayed pubertal signs after age 16, including scant or no  menses in women Global developmental delay before age 6; mild to moderate mental retardation or learning problems in older children Hyperphagia/food foraging/obsession with food Minor Clinical Findings: Decreased fetal movement, infantile lethargy, weak cry Characteristic behavior problems—temper tantrums, violent outbursts, obsessive/compulsive behavior; tendency to be argumentative, oppositional, rigid, manipulative, possessive, and stubborn; perseverating, stealing, lying Sleep disturbance or sleep apnea Short stature for genetic background by age 15 Hypopigmentation—fair skin and hair compared with family Small hands and/or feet for height age Narrow hands with straight ulnar border Eye abnormalities (esotropia, myopia) Thick, viscous saliva with crusting at corners of the mouth Speech articulation defects Skin picking

97 Prader-Willi Syndrome-Common Problems
Obesity Hyperphagia Hypogonadism Hypotonia ID / learning disabilities In the class room -obesity which leads to health problems -hyperphagia -hypogonadism, hypotonia -speech defects -tantrums, OC behavior, skin picking -MR, learning disabilities

98 Prader-Willi Syndrome-Common Treatment
Behavior modification Dietary management SLP Growth hormone -psychotropic medications -behavior modification -special education -dietary management -speech therapy -growth hormone

99 Angelman syndrome AKA Rare Deletion on mother’s chromosome 15
Happy Puppet Syndrome Rare Deletion on mother’s chromosome 15 -AKA Happy Puppet Syndrome -described 1965 by Harry Angelman -rare, but incidence is unknown -deletion on mother’s chromosome 15 Angelman syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

100 Angelman Syndrome Common Features
Small head, wide, smiling mouth Thin upper lip, pointed chin, prominent tongue Frequent laughter Hand-flapping when excited small head, wide, smiling mouth -thin upper lip, pointed chin, prominent tongue -blue eyes (most) -frequent, spontaneous, and often inappropriate laughter -hand-flapping when excited -fair hair and skin (1/2 of cases)

101 Angelman Syndrome Common Problems
ID Severe: IQ < 50 Disparity between receptive and expressive language -MR severe to profound; IQ 50 or less -disparity between understanding and expressing language -sleep disorder -jerky gait, ataxia, microcephaly -strabismus (2/3 cases) -90% have seizures -hyperactivity, short attention-span

102 Angelman Syndrome Common Problems
Sleep disorder Jerky gait, ataxia Microcephaly Strabismus Seizures Hyperactivity -MR severe to profound; IQ 50 or less -disparity between understanding and expressing language -sleep disorder -jerky gait, ataxia, microcephaly -strabismus (2/3 cases) -90% have seizures -hyperactivity, short attention-span

103 Angelman Syndrome Common Treatment
Seizure control PT / OT / SLP Behavior mod. & special ed. Communication devices -seizure control -physical therapy, occupational therapy -behavior modification, special ed -ADL training, sign language training -speech therapy, communication devices -adaptive devices; W/C, communication boards

104 Course Content #21 Describe the key features associated with the following disorders of the sex chromosomes Klinefelter’s Syndrome XYY males XXX females Turner Syndrome Fragile X

105 Klinefelter’s Syndrome
AKA XXY Affects only males Not apparent until puberty AKA XXY Affects males only -presence of at least one extra X chromosome -first described in 1943 by Klinefelter -incidence 1:500 males -usually not apparent until puberty

106 Klinefelter’s Syndrome-Common Features
Tall Female-like breasts Testicular under-development Impairment of secondary sex characteristics ID If any - mild -most are tall -female-like breasts -if MR, usually mild -testicular under-development -impairment of secondary sex characteristics; may be sterile

107 Klinefelter’s Syndrome Common Problems
Frequently sterile Learning disability Personality disturbances Behavior problems Frequently sterile Learning disability regardless of IQ -frequent personality disturbances associated with adjustment problems -behavior problems

108 Klinefelter’s Syndrome Common Treatments
Testosterone therapy Counseling Plastic surgery Behavior modification -testosterone therapy -counseling -plastic surgery (breast reduction) -behavior modification

109 Turner’s Syndrome AKA Affects only Gonadal Dysgenesis XO Syndrome
Female AKA Gonadal Dysgenesis XO Syndrome -Syndrome ID’d 1938 by Dr. Henry Turner -chromosomal deficiency ID’d in 1959 -incidence 1:2,500 live births worldwide -in U.S. ~60,000; 800 new cases per year -Dx. by karyotype -XO genotype on chromosome #23

110 Turner’s Syndrome Common Features
ID Occasional Learning disabilities Life expectancy normal females only -only one X, instead of two; OR partial absence or defect of one -short stature, webbed neck, low hairline in back, low-set ears -faulty sexual development, loss of ovarian function -only occasional MR, frequently have learning disabilities -life expectancy usually normal

111 Turner’s Syndrome Common Features
Short stature Webbed neck, Low hairline in back Low-set ears Sexual development i ovarian function females only -only one X, instead of two; OR partial absence or defect of one -short stature, webbed neck, low hairline in back, low-set ears -faulty sexual development, loss of ovarian function -only occasional MR, frequently have learning disabilities -life expectancy usually normal

112 Turner’s Syndrome-Common Problems
Osteoporosis Constricted aorta Hypertension Kidney problems Hypothyroidism DM -2 Infertility -osteoporosis -constricted aorta -hypertension -1/3 kidney problems, 1/3 hypothyroidism -2 times the risk of Type II Diabetes -infertility

113 Turner’s Syndrome Common Treatments
No cure Hormones GH Estrogen No cure growth hormones -female hormones; estrogen -donor egg/in vitro for reproduction -medical management of health problems -special education for learning disability

114 XYY AKA Affects only Associated with 47XYY males criminals -males only
-incidence 1:1,000 live births -associated with criminality… or is it? -incidence in the incarcerated population 10:700 (10 X general population) -discovered 1961 by Sandberg -study in 1965 by Jacobs

115 XYY Males Common Features
Physical Normal h growth during early childhood Intelligence Slightly below average Physical characteristics Grossly normal May be tall, Severe acne May have elbow abnormalities Increased growth velocity during early childhood ntelligence often slightly below average

116 XYY Males Common Problems
Physical h physical activity i sperm quality Intellectual Slightly i IQ Learning disabilities Delayed mental maturity -increased physical activity -slightly decreased IQ -learning disabilities -decreased sperm quality -frustration, low self-esteem, difficulty with speech, impulsivity, aggressive and antisocial behaviors

117 XYY Males Common Problems
Emotional Delayed mental maturity Frustration Low self-esteem difficulty with speech Impulsivity aggressive & antisocial behaviors Delayed mental maturity -increased physical activity -slightly decreased IQ -learning disabilities -decreased sperm quality -frustration, low self-esteem, difficulty with speech, impulsivity, aggressive and antisocial behaviors

118 XYY Males Common Treatments
Channeling physical activity appropriately Behavior modification SLP Acne treatment Counseling -channeling physical activity appropriately -behavior modification -speech therapy -medical acne treatment -counseling -special education programs

119 XXX Affect only Female AKA Super-female

120 XXX Females Common Features
Physical Normal Intellectually If > 3X (XXXX or XXXXX) h ID & DD IQ 50’s -physically; grossly normal -those with more than one extra X (XXXX or XXXXX) have greater MR and growth deficits -mentally; may/may not be MR (those with XXXX are usually retarded with IQ ~55)

121 XXX Females Common Problems
ID i Growth ? adjustment issues ?unnoticeable -sub-average IQ -growth deficits -may have adjustment issues -may be unnoticeable

122 XXX Females Common Treatments
-special education -counseling

123 Fragile X Syndrome AKA Etiology Affects Martin-Bell Syndrome
long arm X constricted w/protrusion “fragile site” Affects M > F -AKA Martin-Bell Syndrome -2nd most common single cause of MR -etiology=long arm X constricted w/protrusion; “fragile site” -affects more males than females

124 Fragile X Syndrome Common physical Features
Male Female Large ears Long face Prominent chin Short Enlarges testes prominent forehead Flat feet Strabismus Double-jointed fingers Skeletal problems Long, soft hands Less affected Males: -~15-20% exhibit autistic-type behaviors -large ears, long face, prominent chin, short -enlarged testes, prominent forehead -flat feet, strabismus, double-jointed fingers, skeletal problems, long, soft hands Females: smaller numbers and less affected

125 Fragile X Syndrome Common adaptive Problems
Male Female Attention deficit Speech disturbances Hand flapping, hand biting, autistic behaviors Aversion to touch ? ID Mild – severe Learning disabilities ID mild Males: -attention deficit, speech disturbances -hand flapping, hand biting, autistic behaviors, aversion to touch -some not MR; if MR, ranges from mild to severe Females: ~1/3 learning disabilities; MR usually mild

126 Fragile X Syndrome Common Treatment
Individualized Special ed. SLP / OT Behavioral tx Must be very individualized: -special education -speech and language therapy -occupational therapy -behavioral therapy

127 Course continent #22 Describe the key features associated with the following dominant inheritance syndromes: Tuberous sclerosis Neurofibromatosis Nevoid amentia Craniostenosis Apert’s Syndrome Crouzon’s syndrome Marfa’s Syndrome

128 Tuberous Sclerosis AKA Etiology Results in
Bourneville-Pringle Syndrome Etiology Chrom. 9 Chrom. 16 Results in Tumors in many parts of body -AKA Bourneville-Pringle Syndrome -first described by von Recklinghausen 1862 -named by Bourneville 1880 -inc. 1:8,000-12,000 newborns -one million worldwide -~1/3 are inherited; ~2/3 new mutations -caused by one of two genes; 40% from chrom. 9 or 56% from chrom. 16 -results in tumors in many parts of body Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, Intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.[1] The name, composed of the Latin tuber (swelling) and the Greek skleros (hard), refers to the pathological finding of thick, firm and palegyri, called "tubers," in the brains of patients postmortem. These tubers were first described by Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the eponym Bourneville's disease.

129 Tuberous Sclerosis Common Features
Tumors Heart, brain, eyes, kidneys, skin, etc. Triad: Epilepsy MR adenoma sebaceum “Butterfly” rash -tumors in heart, brain, eyes, kidneys, skin, etc. -classic triad: epilepsy, MR, adenoma sebaceum (30% of cases) -classic “butterfly” rash (orange nodules on nose and cheeks) - uneven pupils, ash-leaf spots, Shagreen patches

130 Tuberous Sclerosis Common Problems
Progressive seizures Sebaceous glands are tumorous ID Varies  severe Learning problems seizures may be frequent and prolonged -the worse the seizures, the worse the prognosis; 65% have seizures -sebaceous glands are tumorous -level of MR depends on tumorous involvement of CNS; many severe -learning problems, aggression, rage, AD, OC behaviors, autism The sebaceous glands are microscopic glands in the skin that secrete an oily/waxy matter, called sebum, to lubricate and waterproof the skin and hair of mammals.[1] In humans, they are found in greatest abundance on the face and scalp, though they are distributed throughout all skin sites except the palms and soles.[2] In the eyelids, meibomian sebaceous glands secrete a special type of sebum into tears. There are several related medical conditions, including acne, sebaceous cysts, hyperplasia, sebaceous adenoma and sebaceous gland carcinoma (see section below: Pathology).

131 Tuberous Sclerosis Common Treatment
Early intervention is key Seizure control Rx Surgery? Special education Behavior management Early intervention to overcome developmental delay is key -seizure control main objective; meds -sometimes surgical intervention to remove/minimize tumors -special education -behavior management

132 Neurofibromatosis

133 Neurofibromatosis Two types: NF 1 - AKA NF 2
Von Recklinghausen’s Disease Chrom. 17 NF 2 Chrom. 22 -most common of the three neurocutaneous disorders Two types: -NF 1 AKA Von Recklinghausen’s Disease; long arm of chrom. 17 -NF 2; chrom. 22; usually don’t have skin fibromas or café-au-lait spots -first reported 1882 -inc. 1:5000 births; ~50% spontaneous mutations

134 Neurofibromatosis Common Physical Features
Café au lait spots Skin tumors are common CNS and PNS tumors Diffuse freckling Scoliosis Neurofibromatosis with café au lait spot -10-33% MR, usually mild -café au lait spots are common Café au lait spots or café au lait macules are pigmented birthmarks.[1] The name café au lait is French for "coffee with milk" and refers to their light-brown color. They are also called "giraffe spots" or "coast of Maine spots".[2] -skin tumors are common -CNS and PNS tumors -diffuse freckling -scoliosis & other skeletal abnormalities

135 Neurofibromatosis Common Features
10-33% ID -10-33% MR, usually mild -café au lait spots are common -skin tumors are common -CNS and PNS tumors -diffuse freckling -scoliosis & other skeletal abnormalities

136 Neurofibromatosis Common Problems
Tumors Disfigurement -tumors may number from a few to in the thousands -tumors often cause disfigurement -tumors occasionally become malignant -may have exopthalmus, scoliosis

137 Neurofibromatosis Common Treatment
Surgery Symptomatic -surgical removal of tumors when they are disfiguring, malignant or cause mechanical damage due to local growth -special education -symptomatic treatment -orthopedic treatment for scoliosis

138 Deceased-Neurofibromatosis

139 Nevoid amentia

140 Craniostenosis

141 Apert’s Syndrome AKA Etiology Acrocephalosyndactyly Gene on chrom. 10
often assoc. with older father -AKA Acrocephalosyndactyly -first defined in 1906 -further described by F. Apert 1942 -inc. 1:160,000 live births -50% spontaneous mutation -gene on chrom. 10 -often assoc. with older father

142 Apert’s Syndrome Common Features
Premature closure of cranial sutures Cone-shaped head Fused fingers and toe 20-30% ID h ICP -premature closure of cranial sutures -fusion of soft tissue and bone -cone-shaped head -fused fingers and toes; “sock foot” & “mitten hand” -20-30% MR as a result of brain out-growing skull (^ ICP)

143 Apert’s Syndrome-Mitten Hand

144 Apert’s Syndrome-Sock Foot

145 Apert’s Syndrome Common Problems
Fused digits Malocclusion of teeth Hearing problems Frequent otitis Cleft palate Some -cone-shaped head -fused digits -malocclusion of teeth -hearing problems; frequent otitis -may have cleft palate -developmental delay

146 Apert’s Syndrome Common Treatment
Surgery Cranial multi-staged “cranial remodeling” separate digits Orthodontia SLP Eat tubes Counseling -multi-staged cranial surgeries -AKA “cranial remodeling” -separate digits to increase functionality -orthodontia -speech therapy -ear care/tubes -counseling r/t self image

147 Apert’s Syndrome-

148 Crouzan’s Syndrome AKA Craniofacial Dystosis
Similar to Apert’s, but no syndactyly -AKA Craniofacial Dystosis -similar to Apert’s, but no syndactyly -first described 1912 by Octave Crouzan -inc: 1:25,000 births -25% new mutations

149 Crouzan’s Syndrome Common physical Features
Premature closure of cranial bones Exophthalmos Hypertelorism Malformed mouth Beaked nose -0-20% have MR; mild to moderate -premature closure of cranial bones -exopthalmus -hypertelorism -maxillary hypoplasia/malformed mouth -beaked nose

150 Crouzan’s Syndrome-Common Features
0-20% have ID mild to moderate D/T h ICP -0-20% have MR; mild to moderate -premature closure of cranial bones -exopthalmus -hypertelorism -maxillary hypoplasia/malformed mouth -beaked nose

151 Crouzan’s Syndrome Common Problems
 Hydrocephalus  Hearing problems  Visual problems  Speech problems -^ ICP due to premature fusion leads to MR -may develop hydrocephalus -may have hearing problems -may have visual problems -may have spina bifida -may have speech problems

152 Crouzan’s Syndrome Common Treatment
Surgery cranial remodeling Symptoms special education Shunt Orthodontia Vision/dental care Counseling -cranial remodeling -special education -shunt, if hydrocephalus -orthodontia -vision/dental care -counseling r/t self image

153 6) Marfan’s Syndrome AKA Chrom 15 – geneFBN1
Arachnodactyly Chrom 15 – geneFBN1 Connective tissue disorder Affect heart, skeleton, blood vessels, NS, skin, lungs -AKA Arachnodactyly -a connective tissue D/O; can affect heart, skeleton, blood vessels, NS, skin, lungs -inc: 1:5,000 in USA -25% spontaneous mutation -may see variable expression in families Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome. VINCENT SCHIAVELLI The specialty about him was that he was one of the first famous people to have been diagnosed with this genetic defect. He was a famous American actor, who died in the year 2005 because of this disorder. One of his classic movies which has been my all time favourite is ‘One flew over the Cuckoo’s nest’. His lungs got affected due to which air escaped from a lung thereby causing contraction and collapse ultimately leading to pain and shortness of breath. He was also a member of the NMF (National Marfan Foundation) which is an organization to help people affected with this disorder.

154 Marfan’s Syndrome Common Physical Features
Long, narrow face Flat feet Protruding or indented sternum h length of long bones -long, narrow face -arched roof of mouth, crowded teeth -flat feet -protruding or indented sternum -excessive length of long bones -very tall, slender, loose jointed -some mild MR; most normal IQ

155 Marfan’s Syndrome Common Features
Some mild ID – Most normal IQ Flo Hyman -long, narrow face -arched roof of mouth, crowded teeth -flat feet -protruding or indented sternum -excessive length of long bones -very tall, slender, loose jointed -some mild MR; most normal IQ FLO HYMAN She was an American volley ball player and Olympic silver medalist. Due to weakening of her connective tissue, she suffered from aortic dissection which is a surgical emergency. She died during a volleyball match in Japan in 1986 which means that she was diagnosed of her disorder only after she died. As mentioned earlier, people having Marfan syndrome are unusually tall. Similar was the case with Flo. She was 6 feet 5 inches tall and also an amazing volleyball player. Though she had a lifetime of only 32 years but she changed the definition of volleyball with her extraordinary abilities.

156 Marfan’s Syndrome Common Problems
Heart problems Scoliosis Lens/retinal detachments Learning problems Self-image problems Michael Phelps -heart problems, aortic dilation, valve leaks/murmurs -scoliosis, back problems -lens/retinal detachments -learning problems in non-MR -indented chest puts pressure on internal organs -self-image problems

157 Marfan’s Syndrome-Common Treatment
Symptoms Orthotics Vision care Cardiac surgery Special ed. Counseling Jonathan Larson -orthopedic braces or surgery -vision care; glasses, surgery -cardiac surgery, meds -special education -counseling r/t self-image JONATHAN LARSON He was an award winning playwright who died in the year 1996 because of aortic dissection. His disorder was diagnosed at a very later stage. He was a very classic case of undetected Marfan syndrome. He received three Tony awards and one Pulitzer Prize for his rock opera. Larson was also a famous music composer but he became famous only after his death. During Princess Diana’s funeral his cello piece ‘Song for Athene’ was played. He kept complaining of regular chest pains but nobody could suspect that he had Marfan syndrome.

158 OSAMA BIN LADEN Well this person needs no introduction since we all know who he was. Born in a family of 16 children, he was 6 feet 6 inches tall. His long and bony face with long fingers and arms do point towards to the fact that he had this disorder. Despite of being so tall he weighed only 160 pounds and had difficulty in walking which means he had some spinal problem which is again a symptom of Marfan syndrome. However his disease could not be diagnosed because he stayed in hills and jungles as a fugitive. He is one of the most famous Marfan syndrome sufferers. No deny he has been famous for all the wrong reasons but what we know for sure is that continued having certain health problems because of this disorder. Well this list gives us an example of such people who have learnt to live with their disabilities and yet excelled in life. The way we look at things in life also makes a big difference since human life is full of complexities, be it physical or mental. Life has several good things in store for all of us. If these people mentioned above had given up in the very beginning, do you think they would have been famous in whatever they did? Of course not. Thus we should learn to develop a positive attitude to deal with adversities in life instead of getting discouraged and demoralized.

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