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P020A Developmental Disabilities

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1 P020A Developmental Disabilities
Mrs. Elizabeth Keele, RN

2 Course Objective #23 Identify the metabolic problem and the resulting presentation in each of the following recessive inheritance syndromes: Phenylketonuria Galactosemia Tay-Sachs Disease Hurler Syndrome Lesch-Nyhan Syndrome Gaucher’s disease Neimann-Pick Disease Wilson’s Disease Cretinism

3 Phenylketonuria AKA: Gene on chromosome 12
PKU Gene on chromosome 12 maybe 4 & 11 Most common inborn error of metabolism Incidence 1:10,000 in USA carrier 1:50 -AKA PKU, first described 1934 -rare, metabolic D/O of protein metabolism -gene on chromosome 12, maybe 4 & 11 -most common inborn error of metabolism -inc.1:10,000 in USA; carrier 1:50 -screening test since 1960s; Guthrie test -must be screened after first 24 hrs. or before 7-14 days

4 Phenylketonuria Cannot breakdown phenylalanine  Screening test
h phenylalanine  toxic to CNS Screening test Guthrie test Screening timeline After first 24 hrs. or before 7-14 days -AKA PKU, first described 1934 -rare, metabolic D/O of protein metabolism -gene on chromosome 12, maybe 4 & 11 -most common inborn error of metabolism -inc.1:10,000 in USA; carrier 1:50 -screening test since 1960s; Guthrie test -must be screened after first 24 hrs. or before 7-14 days

5 Phenylketonuria Common Features
Appear 7-10 days after birth ID if not treated early Blond & fair Musty odor Microcephaly -MR, if not treated early -Sx. begin 7-10 days after birth -high levels of phenylalanine toxic to CNS -blonder and fairer than family -musty o dor, blue eyes -90% babies will have MR and/or microcephaly

6 Phenylketonuria Common Problems
Vomiting Irritability Dry skin / Rash Seizures -early Sx: vomiting, irritability, mousy urine odor, -dry skin, rashes, seizures -”maternal PKU” -irritability, restlessness, destructiveness, hyperactivity, bizarre body movements -if diet stopped; lower IQ, learning disabilities, behavior problems, tremors, eczema, personality D/O, impaired communication

7 Phenylketonuria Common Problems
“Maternal PKU” -early Sx: vomiting, irritability, mousy urine odor, -dry skin, rashes, seizures -”maternal PKU” -irritability, restlessness, destructiveness, hyperactivity, bizarre body movements -if diet stopped; lower IQ, learning disabilities, behavior problems, tremors, eczema, personality D/O, impaired communication

8 Phenylketonuria Common Problems
If noncompliant with diet lower IQ Learning disabilities behavior problems Tremors Eczema Impaired communication -early Sx: vomiting, irritability, mousy urine odor, -dry skin, rashes, seizures -”maternal PKU” -irritability, restlessness, destructiveness, hyperactivity, bizarre body movements -if diet stopped; lower IQ, learning disabilities, behavior problems, tremors, eczema, personality D/O, impaired communication

9 Phenylketonuria Common Treatment
TREATABLE!!!! Low-protein /phenylalanine diet Monitor blood phenylalanine levels Skin care Symptom tx -low-protein/phenylalanine diet ASAP & life-long (change from early belief) begun in 1955 -monitor blood phenylalanine levels -special education -behavior management -skin care -prevent maternal PKU by adhering to diet three months before/during pregnancy

10 Phenylketonuria Common Treatment
Prevent maternal PKU by adhering to diet three months before/during pregnancy -low-protein/phenylalanine diet ASAP & life-long (change from early belief) begun in 1955 -monitor blood phenylalanine levels -special education -behavior management -skin care -prevent maternal PKU by adhering to diet three months before/during pregnancy

11 Galactosemia Chromosome 9 Missing liver enzyme Incidence
can’t digest milk-products Galactose Incidence 1:20,000-1:60,000 live births -rare, metabolic D/O -missing liver enzyme; can’t digest milk-products (galactose) -inc. 1:20,000-1:60,000 live births -discovered 1908; ID’d as inherited 1917 -chromosome 9 ID’d as source 1956 -screening test since 1963 (Guthrie & Paigen)

12 Glactosemia - Pathophysiology
If an infant with galactosemia is given milk, Galactose Toxic levels Damage Liver Brain Kidneys Eyes If an infant with galactosemia is given milk, substances made from galactose build up in the infant's system. These substances damage the liver, brain, kidneys, and eyes. Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be careful about eating other foods containing galactose. Symptoms Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.

13 Galactosemia Common Features
S&S appear quickly Vomiting Jaundice Lethargy Irritability Seizures ID is preventable S&S may be due E. coli. -sx. appear first few days of life -early Sx.: vomiting, jaundice, lethargy, irritability, convulsions -if untreated, 75% infants die -MR is preventable -even with treatment, may have mild IQ impairment Symptoms Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.

14 Galactosemia Common Problems
Severe ID Aminoaciduria Amino acids in blood Hepatomegaly Enlarged liver Ascites Hypoglycemia -severe MR -enlarged liver, cirrhosis, kidney failure -cataracts -delayed speech -even with tx., may have long-term complications: speech & language delay, fine & gross motor delay, learning disabilities, ovarian failure in girls Vomiting Exams and Tests Signs include: Amino acids in the urine and/or blood plasma (aminoaciduria) Enlarged liver (hepatomegaly) Fluid in the abdomen (ascites) Low blood sugar (hypoglycemia)

15 If not treated… Cataracts Cirrhosis of the liver Death Delayed speech
i ovarian failure Intellectual disability E. coli sepsis Tremors and uncontrollable motor functions

16 Galactosemia Common Treatment
Galactose-free diet life-long Calcium supplements -galactose-free diet ASAP & life-long -special education -speech therapy -physical therapy, early intervention Treatment People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer. Infants can be fed with: Soy formula Meat-based formula or Nutramigen (a protein hydrolysate formula) Another lactose-free formula Calcium supplements are recommended.

17 Tay-Sach’s Disease Chromosome 15 Incidence: 1:30 Jews
1:270 general population metabolic D/O -lacks enzyme; can’t metabolize fatty substances -described mid-1880s by Drs. Tay & Sachs -chromosome 15 involved -inc. carrier: 1:30 American Jews; 1:270 general population

18 Tay Sach’s Body lacks Hexosamindase A h Ganglioside 
Nerve and brain cell destruction  Deathmosis

19 Tay-Sach’s Disease Common Features
Appear about 3-6 months Deaf & blind i muscle tone Irritable Paralysis Seizure -fatty substances build up in nerve and brain cells until CNS stops working -death by 5 years of age -appears normal first few months -more common in Central & European (Ashkenazi) Jews, French Canadians, Louisiana Cajuns Deafness Decreased eye contact, blindness Decreased muscle tone (loss of muscle strength) Delayed mental and social skills Dementia Increased startle reaction Irritability Listlessness Loss of motor skills Paralysis or loss of muscle function Seizures Slow growth

20 Tay-Sach’s Disease Common Problems
No cure or treatment Death by 5 yrs no cure, no treatment -development slows/regresses ~6 months -seizures, blindness, spasticity, paralysis -progresses to unresponsiveness, vegetative state and death

21 Tay-Sach’s Disease Common Treatment
Supportive care Grief counseling -supportive care only -grief counseling for parents

22 Hurler’s Syndrome AKA: Cannot breakdown sugar molecule Gargoylism
Hunter’s Cannot breakdown sugar molecule Glycosaminoglycans -metabolic D/O -problem metabolizing carbohydrates -first observed 1900 -first described 1917 by Hunter & 1919 by Hurler; independent of each other -inc. 1:100,000

23 Hurler’s Syndrome Common Features
h Muccopolysaccharides /Glycosaminoglycans Symptoms appear “Normal” birth @ 2 yrs -metabolic D/O -problem metabolizing carbohydrates -first observed 1900 -first described 1917 by Hunter & 1919 by Hurler; independent of each other -inc. 1:100,000 -muccopolysaccharides accumulate in “storage cells” -enlarged head -protruding abdomen/umbilical hernia -appear normal through first year or two -Sx. progress to death by 10 years of age -Hunter’s Syndrome less severe form Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life. Symptoms include: Abnormal bones in the spine Claw hand Cloudy corneas Deafness Halted growth Heart valve problems Joint disease, including stiffness Intellectual disability that gets worse over time Thick, coarse facial features with low nasal bridge

24 Hurler’s Syndrome Common Features
Claw hand i growth Heart valve problems Joint Disease Thick, coarse facial features ID - progressive -metabolic D/O -problem metabolizing carbohydrates -first observed 1900 -first described 1917 by Hunter & 1919 by Hurler; independent of each other -inc. 1:100,000 -muccopolysaccharides accumulate in “storage cells” -enlarged head -protruding abdomen/umbilical hernia -appear normal through first year or two -Sx. progress to death by 10 years of age -Hunter’s Syndrome less severe form Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life. Symptoms include: Abnormal bones in the spine Claw hand Cloudy corneas Deafness Halted growth Heart valve problems Joint disease, including stiffness Intellectual disability that gets worse over time Thick, coarse facial features with low nasal bridge

25 Hurler’s Syndrome Common Problems
Dwarfism & kyphosis Deaf Corneal clouding Cardiac ID -dwarfism/kyphosis “hunchback” -deafness, corneal clouding -hepatosplenomegally -cardiac abnormalities -severe MR -gargoyle-like facies, large, protruding tongue, thick lips

26 Hurler’s Syndrome-Common Treatment
Supportive care Prognosis Poor -supportive care -no treatment historically -recent trials with enzyme replacement therapy, gene replacement therapy, stem cell therapy -genetic & grief counseling for parents

27 Lesch-Nyhan Syndrome AKA X-linked recessive Incidence Hyperuricemia
Lip-Biting Syndrome X-linked recessive Incidence 1:100,000 males -AKA Hyperuricemia, Lip-Biting Syndrome -X-linked recessive, metabolic D/O -inc. 1:100,000 males; rare in females -described 1964 by Lesch & Nyhan -error in protein metabolism; results in high levels of uric acid -symptoms appear by 3-6 months

28 Lesch-Nyhan Syndrome Lack enzyme needed to recycle purines 
h uric acid S&S appear by 3-6 months -AKA Hyperuricemia, Lip-Biting Syndrome -X-linked recessive, metabolic D/O -inc. 1:100,000 males; rare in females -described 1964 by Lesch & Nyhan -error in protein metabolism; results in high levels of uric acid -symptoms appear by 3-6 months Lesch-Nyhan syndrome is passed down through families (inherited) as an X-linked trait. It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

29 Lesch-Nyhan Syndrome- Common Features
h uric acid level Progressive ID Compulsive, self-destructive behavior -progressive MR; mild to severe -brief, normal infancy -increased uric acid level -compulsive, aggressive behavior -neurological disabilities -behavior problems Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop. Males with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior including chewing off fingertips and lips. It is unknown how the disease causes these problems.

30 Lesch-Nyhan Syndrome Common Problems
Gout Kidney stones Self-mutilation Lips, mouth, tongue, fingers -MR, choreoathetosis, -early sx.: orange, sand-like crystals in diaper, hematuria, irritability,poor motor development, kidney stones/damage, dysphagia, vomiting -self-mutilation; lips, mouth, tongue, fingers Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop

31 Lesch-Nyhan Syndrome-Common Treatment
Rx to reduce uric acid Allopurinol Behavior modification Hydration Safe environment -medication to reduce uric acid; allopurinol -behavior modification -special education -adequate hydration -safe environment -lithotripsy for kidney stones

32 Gaucher’s Disease Incidence Chromosome 1 Various types 1:1,000 Jews
-AKA Cerebroside Lipidosis -inc. 1:1,000 Ashkenazi Jews -involves chromosome 1 -described by Gaucher in 1882 -3 types; symptoms & outcome variable

33 Gaucher’s Disease-Common Features
Glucocerebroside (lipid) accumulates in visceral organs S&S appear Different ages -glucocerebroside accumulates as fatty substance in “Gaucher Cells” in visceral organs -Sx. appear at different ages depending on type -progressive neurological deterioration -affects liver/spleen/lungs/bone marrow/brain occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according

34 Gaucher’s Disease-Common Features
Progressive neurological deterioration Affects Liver Spleen Lungs Bone marrow Brain -glucocerebroside accumulates as fatty substance in “Gaucher Cells” in visceral organs -Sx. appear at different ages depending on type -progressive neurological deterioration -affects liver/spleen/lungs/bone marrow/brain occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according

35 Gaucher’s Disease-Common Problems
Progressive neurological problems ID Bone/joint pain Type I fatal -progressive neurological problems -MR -hepatosplenomegally -blood abnormalities/bruising -bone/joint pain & fractures -Type I fatal by 2 yrs.

36 Gaucher’s Disease-Common Treatment
Genetic counseling Enzyme replacement therapy -genetic counseling for parents -grief counseling -supportive care -enzyme replacement therapy -bone marrow transplant

37 Niemann-Pick Disease Gene on chromosome 11 Incidence
1:450 Jews 1:100,000 gen. Pop. Can’t metabolize sphingomyelin -AKA Sphingomyelin Lipidosis -1914 Niemann; 1927 Pick -gene on chromosome 11 -inc. 1:450 Ashkenazi Jews; 1:100,000 gen. Pop. -can’t metabolize sphingomyelin -several types; symptoms vary

38 Niemann-Pick Disease -Common Features
h Sphingomyelin Lipid storage disease  Cell death & organ failure -sphingomyelin accumulates in “foamy” cells -lipid storage disease -leads to cell death and organ failure

39 Niemann-Pick Disease -Common Problems
ID Progressive motor skills loss Enlarged liver/spleen  jaundice S&S r/t organs affected -MR -progressive motor skills loss -enlarged liver/spleen, jaundice -learning disabilities -symptoms relate to organs affected

40 Niemann-Pick Disease -Common Treatment
Supportive & symptomatic Genetic counseling -supportive and symptomatic -research being done in gene replacement & enzyme replacement -bone marrow transplants have had mixed results -special education -genetic counseling for parents

41 Wilson’s Disease Gene on chromosome 13 Can’t metabolize S&S appear
copper S&S appear yrs -AKA Hepatolenticular Degeneration -gene on chromosome 13 -most inherited, some new mutations -inc. 1:30,000 worldwide -can’t metabolize copper -sx. onset anywhere between 4-50

42 Wilson’s Disease-Common Features
h Copper Affects Liver CNS Kayser-Fleischer rings -starts immediately after birth -early development often normal -brain & liver affected first; then kidneys & eyes -usually die by 50 yrs. -Sx. appear in late adolescence; jaundice, abdomen pain/vomiting blood, tremors, ataxia, open drooling mouth, flexion contracture wrist, Kayser-Fleischer rings -MR; may develop MI -hepatitis, liver failure -difficulty walking & talking, tremors Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.

43 Kayser-Fleischer Rings
The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.

44 Wilson’s Disease-Common Treatment
i Copper diet water supply low copper diet ASAP & lifelong -check water supply -chelating meds decrease accumulated copper & decrease absorption of copper -symptomatic care -special education -physical & speech therapy

45 Congenital Hypothyroidism (Cretinism)
AKA Congenital Hypothyroidism absence/deficiency of thyroid hormone Early diagnosis critical to prevent ID Dx tests: T3, T4, TSH -AKA Congenital Hypothyroidism -absence/deficiency of thyroid hormone -first described 1855 -inc. 1:6,000-7,000 -affects girls more than boys -early diagnosis critical to prevent MR -Dx. using tests: T3, T4, TSH

46 Congenital Hypothyroidism (Cretinism)-Common Features
Dwarfism Large tongue, Low metabolic rate Intolerance to cold -may appear normal until mos. -growth retardation, dwarfism -developmental delay -large tongue, low B/P, low metabolic rate -no body hair, intolerance to cold -”potbelly”, open mouth, thick lips -hoarseness, dullness, “horse hair”

47 Congenital Hypothyroidism (Cretinism)-Common Problems
Poor feeding, Constipation Short -MR; untreated, severe to profound -poor feeding, constipation -rarely over 4 ft.; usually under 3 ft. tall -hypotonia, sluggishness -cardiac & circulatory D/Os common

48 Congenital Hypothyroidism (Cretinism)-Common Treatment
Early dx Replace Thyroid hormone early diagnosis -thyroid hormone supplementation -increased iodine diet (iodized salt) -special education -speech therapy -symptomatic treatment

49 Course Objective #24 Describe features of the following multiple etiology congenital disorders: Cornelia de Lange Syndrome Laurence-moon syndrome

50 Cornelia de Lange Syndrome
AKA Brachmann-de Lange R/T chromosome 3 -AKA Brachmann-de Lange -most likely R/T chromosome 3 -Brachmann 1916; de Lange 1933 -inc. 1:40, ,000 live births -affects male and female equally -usually new mutation; rarely inherited

51 Cornelia de Lange Syndrome-Common Features
Microcephaly Hirsutism Low birth weight failure to thrive Short stature ID – Severe Clinodactyly, Syndactyly Cleft palate -usually recognizable at birth -microcephaly, hirsutism -birth weight <5 lbs., slow growth, failure to thrive -low hairline, front & back; long, curly eye lashes, small, upturned nose -short stature, poor health -MR mostly severe; avg. IQ 53, some normal

52 Cornelia de Lange Syndrome-Common Problems
ID Self-mutilation Behavior problems Seizures Cleft palate Hearing loss & speech delay -MR; self-mutilation, at times -behavior problems; hyperactivity, short attention span, oppositional behavior -clinodactyly, syndactyly of 2-3 toes, small feet/hands, seizures, cleft palate, thin, confluent eyebrow,short limbs -microcephaly, 60% hearing loss & speech delay

53 Cornelia de Lange Syndrome-Common Treatment
GH Communication aides Special education Behavior modification -special education -speech therapy -possibly growth hormones -communication aides -behavior modification

54 Laurence-Moon Syndrome
Genes on chromosomes 11, 13, 15, 16 Incidence :13,500 Arabs in Kuwait 1:160,000 gen. pop -AKA Laurence-Moon-Biedl -AKA Laurence-Moon-Bardet-Biedl -not known if single or separate syndrome -genes on chomosomes 11, 13, 15, 16 -inc. 1:13,500 Arabs in Kuwait; 1:160,000 general population -1866 by Laurence & Moon

55 Laurence-Moon Syndrome Common Features
Gen. obesity Dwarfism Skeletal defects Progressive vision problems Hypogenitalism -generalized obesity starts at 1-2 yrs. -short, dwarfism -skeletal defects -progressive vision problems -hypogenitalism

56 Laurence-Moon Syndrome-Common Problems
ID Blindness Kidney & cardiac disorders Speech problems Syndactyly Polydactyly -MR; mild to severe; most normal -75% blind by 20 yrs. -kidney & cardiac disorders -speech problems -syndactyly, polydactyly

57 Laurence-Moon Syndrome-Common Treatment
Diet Visual aides SLP Kidney care Surgery to remove extra digits -diet management -visual aides -speech therapy -kidney treatment/transplantation -special education -surgery to remove extra digits

58 Course Objective #25 Differentiate between microcephaly and macrocephaly

59 Microcephaly Causes -may be autosomal recessive, X-linked, familial type or associated with numerous syndromes -inc. 1.6:1,000 or 1-2.5% of general population -MR mild to moderate; some normal

60 Microcephaly-Common Features
Small head -small head; normal sized face that seems too large -high-arched palate, sloping forehead -short, dwarfism -facial distortion

61 Microcephaly-Common Problems
ID Strabismus Hypertonia Seizures Behavior problems -MR, delayed motor function -strabismus, spasticity, hypertonia -seizures -delayed speech -hyperactivity, behavior problems

62 Microcephaly-Common Treatment
Early intervention Anticonvulsant medication -early intervention -physical & speech therapy -special education -anticonvulsant medication -symptomatic treatment -behavior modification -genetic counseling for parents

63 Shunt

64 Megaloencephaly 1o 2o ID no underlying disease D/T metabolic D/O
May be normal, MR or >IQ -extremely rare -2 types: primary & secondary primary: no underlying disease or D/O symptomatic: caused by metabolic D/O or neoplasm -may be normal, MR or >IQ

65 Megaloencephaly-Common Features
h brain weight > 1600 g Normal g Deformed skull -varying levels of MR -abnormally large and heavy brain/head brain weight: > 1600 gm. in adult gm. = normal -males affected more than girls

66 Megaloencephaly-Common Problems
ID / DD Seizures Neuro deficits -MR, developmental delay -seizures -neurological problems

67 Megaloencephaly-Common Treatment
Symptomatic treatment -symptomatic treatment -supportive care -seizure management -treatment of underlying cause of symptomatic type -80% normal IQ, but have learning disabilities

68 Course Objectives #27 Explain the difference between cultural-familial retardation and psychosocial disadvantage

69 Cultural-Familial Retardation
ID Mild No Physical disability D/T Environmental causes Poor prenatal care Nutrition Disease Toxins Subnormal general intellectual functioning, usually borderline or mild, presumably on the basis of some degree of environmental deprivation resulting from familial retardation as evidenced by its presence in one parent and one or more siblings. Cultural–familial retardation Familial Retardation (Also called sociocultural or cultural-familial retardation) Mild mental retardation attributed to environmental causes and generally involving some degree of psychosocial disadvantage. The majority of persons suffering from mental retardation fall into the category of familial retardation rather than that of clinical retardation, which usually has neurological or other organic causes. Persons with familial retardation typically have IQs ranging from and show no signs of physical disability. Environmental causes thought to contribute to familial retardation include the quality of the mother's prenatal care, maternal and child nutrition, family size, the spacing of births within a family, disease, and health risks from environmental toxins such as lead. The 1994 publication of The Bell Curve, an analysis, by Richard J. Herrnstein and Charles Murray, of the relative importance of heredity and environment in determining IQ scores, and the 1995 release of the most in-depth study to date on retardation among school children both renewed public interest in familial retardation and its causes. Familial retardation is usually not detected until a child enters school and has academic difficulties, at which point the teacher recommends psychological evaluation. Unlike the parents of clinically retarded children, who generally seek out help for their youngsters, the parents of those with familial retardation may take offense when their children are labeled mentally retarded and deny that there is a problem, especially since their children are often able to function competently in their daily lives outside school. Some studies have shown that educators are more likely to classify poor and/or minority children as mentally retarded, while labeling white middle-class children with comparable IQ scores as learning disabled. Other critics have pointed out that familial retardation may be diagnosed in children who are simply unprepared to cope with the demands of school because of cultural and linguistic isolation. Familial retardation may be reduced by nutritional, health, and educational intervention at an early age. In a study conducted in the 1970s, educators selected mother-child pairs from among a group of women with IQs under 75 living in the poorest section of Milwaukee, Wisconsin, while establishing a control group of mothers in the same neighborhood with IQs over 100. For the first five years of the children's lives, the targeted group of mothers and their children received instruction in problem-solving and language skills, as well as counseling to motivate them to learn and succeed. The mothers and children in the control group received no form of environmental enrichment. At the age of five, the children in the target group had IQ scores averaging 26 points higher than those of the children in the control group. At the age of nine, their average IQ was 106 (slightly above the universal norm of 100), while that of the other children was only 79. (Later results, however, were somewhat disappointing, as the mothers' motivation to continue the program became difficult to maintain over the long term.) In 1995, an Atlanta study conducted jointly by the Centers for Disease Control and Prevention and Emory University found important new evidence linking mild retardation to social and educational deprivation. It was found that 8.4 out of every 1, year-olds were mildly retarded (defined as an IQ of 50-70), while 3.6 of every 1,000 suffered severe retardation due to such conditions as cerebral palsy orDown syndrome. The incidence of mild retardation was 2.6 higher in blacks than whites, although this difference was halved when socioeconomic factors were taken into account. Children of all races were four times as likely to be mildly retarded if their mothers had not finished high school. The incidence of mental retardation was also slightly higher for children of teenage mothers. The Atlanta study also confirmed earlier claims that teachers are more likely to seek IQ testing for minority children from poor families. Based on the findings of this survey, What is CULTURAL-FAMILIAL MENTAL RETARDATION? cognitive retardation, typically slight, which takes place in lieu of any recognized natural cause and is thereby credited to genetic or early environmental facets. Commonly referred to as familial retardation and sociocultural mental retardation. CULTURAL-FAMILIAL MENTAL RETARDATION: "The young girl was assumed to have been affected by cultural-familial mental retardation." Psychology Dictionary: http://psychologydictionary.org/cultural-familial-mental-retardation/#ixzz2qbVtya22 The chapter will focus specifically on cultural-familial retardation, a condition that describes approximately 75% of all retarded people. Individuals suffering from this form of retardation have also been labeled “retarded due to psychosocial disadvantage” in an American Association on Mental Deficiency publication on classification (Grossman, 1983, p. 149). Characteristics of cultural–familial retarded people The cultural–familial group includes those individuals whose mental retardation does not result from specific, identifiable organic or genetic anomalies (e.g., Down syndrome or focused brain damage); excluded from the cultural–familial group are “those whose intellectual apparatus has been damaged, thus altering the biological side of the formula” (Zigler, 1987, p. 4). Accordingly, unusual physical characteristics such as those associated with Down syndrome or phenylketonuria are not likely to be present; instead, cultural–familial retarded persons tend to look very much like their nonretarded peers.

70 Psychosocial ID D/T Not reversible Abuse family Neglect family
psychosocial factors No organic cause Not reversible Abuse family Neglect family Psychosocial mental retardation is mental retardation that is due to psychosocial factors. To the degree to which there is no organic cause and the fact that environmental or economic factors are responsible might lead one to suppose that the condition is reversible but this is not always straightforward. The long term effects of childhood abuse and/or parental neglect on intellectual capacity can be difficult to overcome.

71 Course #28 Explain what is meant by a neural tube defect and describe the difference between the various forms of this type of disorder.

72 Spinal Bifida Pathophysiology Congenital Neural Tube defect
Incomplete closure of the vertebrae 3 Levels Spina Bifida Occulta Meningocele Myelomeningocele

73 Spina bifida occulta Bones of the spine do not close
But the spinal cord and meninges remain in place And skin usually covers the defect

74 Meningocele Meninges protrude from the spinal canal
But the spinal cord remains in place

75 Myelomeningocele Both the spinal cord and the meninges protrude from the spinal canal Co-morbidity Hydrocephalus Myelomeningocele is the most common type of spina bifida. It is a neural tube defect in which the bones of the spine do not completely form, resulting in an incomplete spinal canal. This causes the spinal cord and meninges (the tissues covering the spinal cord) to stick out of the child's back. Myelomeningocele may affect as many as 1 out of every 800 infants. The rest of spina bifida cases are most commonly: Spina bifida occulta, a condition in which the bones of the spine do not close but the spinal cord and meninges remain in place and skin usually covers the defect Meningoceles, a condition where the tissue covering the spinal cord sticks out of the spinal defect but the spinal cord remains in place. Other congenital disorders or birth defects may also be present in a child with myelomeningocele. Hydrocephalus may affect as many as 90% of children with myelomeningocele. Other disorders of the spinal cord or musculoskeletal system may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. The vitamin folic acid (or folate) is important for brain and spinal cord development. Also, if a child is born with myelomeningocele, future children in that family have a higher risk than the general population. However, in many cases, there is no family connection. Some theorize that a virus make play a role, since there is a higher rate of this condition in children born in the early winter months. Research also indicates possible environmental factors such as radiation.

76 Spinal Bifida Myelomeningocele must have a repair of the open neural tube. Failure to repair may result in serious infection which would harm the developing infant brain. After the repair, many children require the insertion of a device called a shunt to divert the cerebral spinal fluid to treat the hydrocephalus. The Infant with Myelomeningocele

77 Spinal Bifida Etiology Idopathic
Folic acid deficiency during pregnancy Esp 1st month

78 Spinal Bifida Diagnosis Ultrasound h Alpha fetoprotein

79 Spinal Bifida What food contain folic Acid? Greens Asparagus Broccoli
Cauliflower Corn Green Beans or Peas Sweet Potato Cabbage or Coleslaw Black Beans Lentils Peas Peanuts

80 Course Content #29 Identify non-genetic biological causes of development disabilities factors that are required Prenatally Perinatally Postnatally

81 Prenatal Toxic substances Infection

82 Perinatal Premature Birth injuries Deprived of O2 Forceps Nuchal chord
Perinatal causes of ID: premature birth weight: babies weighing less than 3.3 lbs will have a 10-15% risk of ID birth injuries: deprived of oxygen, forceps injury, etc. Postnatal causes of MR: brain damage: result from infections & environmental hazards infections: encephalitis, meningitis (infection covering the brain caused by variety of viral or bacterial agents), & pediatric AIDS vaccinations reduce chances of ID mosquitoes also carry diseases that sometimes causes ID lead poisoning

83 Postnatal Brain damage: Infections TBI Encephalitis Meningitis
vaccinations mosquitoes Lead poisoning TBI Perinatal causes of ID: premature birth weight: babies weighing less than 3.3 lbs will have a 10-15% risk of ID birth injuries: deprived of oxygen, forceps injury, etc. Postnatal causes of MR: brain damage: result from infections & environmental hazards infections: encephalitis, meningitis (infection covering the brain caused by variety of viral or bacterial agents), & pediatric AIDS vaccinations reduce chances of ID mosquitoes also carry diseases that sometimes causes ID lead poisoning

84 Prenatal Perinatal Postnatal Toxic substances (drugs, alcohol)
Infection Perinatal Delivery complications Postnatal Head Injury


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