Presentation on theme: "P020A Developmental Disabilities"— Presentation transcript:
1 P020A Developmental Disabilities Mrs. Elizabeth Keele, RN
2 Course Objective #23Identify the metabolic problem and the resulting presentation in each of the following recessive inheritance syndromes:PhenylketonuriaGalactosemiaTay-Sachs DiseaseHurler SyndromeLesch-Nyhan SyndromeGaucher’s diseaseNeimann-Pick DiseaseWilson’s DiseaseCretinism
3 Phenylketonuria AKA: Gene on chromosome 12 PKUGene on chromosome 12maybe 4 & 11Most common inborn error of metabolismIncidence1:10,000 in USAcarrier 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 CNSScreening testGuthrie testScreening timelineAfter 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 Appear7-10 days after birthIDif not treated earlyBlond & fairMusty odorMicrocephaly-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 odor, blue eyes-90% babies will have MR and/or microcephaly
8 Phenylketonuria Common Problems If noncompliant with dietlower IQLearning disabilitiesbehavior problemsTremorsEczemaImpaired 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 dietMonitor blood phenylalanine levelsSkin careSymptom 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 byadhering to dietthree 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-productsGalactoseIncidence1:20,000-1:60,000 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,GalactoseToxic levelsDamageLiverBrainKidneysEyesIf 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.SymptomsInfants 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 quicklyVomitingJaundiceLethargyIrritabilitySeizuresID is preventableS&S may be dueE. 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 impairmentSymptomsInfants 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 IDAminoaciduriaAmino acids in bloodHepatomegalyEnlarged liverAscitesHypoglycemia-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 girlsVomitingExams and TestsSigns 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 failureIntellectual disabilityE. coli sepsisTremors and uncontrollable motor functions
16 Galactosemia Common Treatment Galactose-free dietlife-longCalcium supplements-galactose-free diet ASAP & life-long-special education-speech therapy-physical therapy, early interventionTreatmentPeople 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 formulaMeat-based formula or Nutramigen (a protein hydrolysate formula)Another lactose-free formulaCalcium supplements are recommended.
17 Tay-Sach’s Disease Chromosome 15 Incidence: 1:30 Jews 1:270 general populationmetabolic 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 Appearabout 3-6 monthsDeaf & blindi muscle toneIrritableParalysisSeizure-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 CajunsDeafnessDecreased eye contact, blindnessDecreased muscle tone (loss of muscle strength)Delayed mental and social skillsDementiaIncreased startle reactionIrritabilityListlessnessLoss of motor skillsParalysis or loss of muscle functionSeizuresSlow growth
20 Tay-Sach’s Disease Common Problems No cure or treatmentDeath by 5 yrsno 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 careGrief counseling-supportive care only-grief counseling for parents
22 Hurler’s Syndrome AKA: Cannot breakdown sugar molecule Gargoylism Hunter’sCannot breakdown sugar moleculeGlycosaminoglycans-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 /GlycosaminoglycansSymptoms 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 formSymptoms 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 spineClaw handCloudy corneasDeafnessHalted growthHeart valve problemsJoint disease, including stiffnessIntellectual disability that gets worse over timeThick, coarse facial features with low nasal bridge
24 Hurler’s Syndrome Common Features Claw handi growthHeart valve problemsJoint DiseaseThick, coarse facial featuresID - 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 formSymptoms 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 spineClaw handCloudy corneasDeafnessHalted growthHeart valve problemsJoint disease, including stiffnessIntellectual disability that gets worse over timeThick, coarse facial features with low nasal bridge
27 Lesch-Nyhan Syndrome AKA X-linked recessive Incidence Hyperuricemia Lip-Biting SyndromeX-linked recessiveIncidence1:100,000 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 acidS&S appearby 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 monthsLesch-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 levelProgressive IDCompulsive, self-destructive behavior-progressive MR; mild to severe-brief, normal infancy-increased uric acid level-compulsive, aggressive behavior-neurological disabilities-behavior problemsToo 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 GoutKidney stonesSelf-mutilationLips, 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, fingersToo 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 acidAllopurinolBehavior modificationHydrationSafe 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 organsS&S appearDifferent 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/brainoccurs 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 deteriorationAffectsLiverSpleenLungsBone marrowBrain-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/brainoccurs 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 problemsIDBone/joint painType I fatal-progressive neurological problems-MR-hepatosplenomegally-blood abnormalities/bruising-bone/joint pain & fractures-Type I fatal by 2 yrs.
37 Niemann-Pick Disease Gene on chromosome 11 Incidence 1:450 Jews1:100,000 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 SphingomyelinLipid 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 IDProgressive motor skills lossEnlarged liver/spleen jaundiceS&S r/torgans affected-MR-progressive motor skills loss-enlarged liver/spleen, jaundice-learning disabilities-symptoms relate to organs affected
40 Niemann-Pick Disease -Common Treatment Supportive & symptomaticGenetic 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 copperS&S appearyrs-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 CopperAffectsLiverCNSKayser-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, tremorsNormally, 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 dietwater supplylow 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) AKACongenital Hypothyroidismabsence/deficiency ofthyroid hormoneEarly diagnosis critical to prevent IDDx 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 DwarfismLarge tongue,Low metabolic rateIntolerance 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,ConstipationShort-MR; untreated, severe to profound-poor feeding, constipation-rarely over 4 ft.; usually under 3 ft. tall-hypotonia, sluggishness-cardiac & circulatory D/Os common
49 Course Objective #24Describe features of the following multiple etiology congenital disorders:Cornelia de Lange SyndromeLaurence-moon syndrome
50 Cornelia de Lange Syndrome AKABrachmann-de LangeR/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 MicrocephalyHirsutismLow birth weightfailure to thriveShort statureID –SevereClinodactyly,SyndactylyCleft 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 IDSelf-mutilationBehavior problemsSeizuresCleft palateHearing 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 GHCommunication aidesSpecial educationBehavior modification-special education-speech therapy-possibly growth hormones-communication aides-behavior modification
54 Laurence-Moon Syndrome Genes on chromosomes11, 13, 15, 16Incidence:13,500 Arabs in Kuwait1:160,000 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. obesityDwarfismSkeletal defectsProgressive vision problemsHypogenitalism-generalized obesity starts at 1-2 yrs.-short, dwarfism-skeletal defects-progressive vision problems-hypogenitalism
56 Laurence-Moon Syndrome-Common Problems IDBlindnessKidney & cardiac disordersSpeech problemsSyndactylyPolydactyly-MR; mild to severe; most normal-75% blind by 20 yrs.-kidney & cardiac disorders-speech problems-syndactyly, polydactyly
57 Laurence-Moon Syndrome-Common Treatment DietVisual aidesSLPKidney careSurgeryto remove extra digits-diet management-visual aides-speech therapy-kidney treatment/transplantation-special education-surgery to remove extra digits
58 Course Objective #25Differentiate between microcephaly and macrocephaly
59 MicrocephalyCauses-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
64 Megaloencephaly 1o 2o ID no underlying disease D/T metabolic D/O May be normal, MR or >IQ-extremely rare-2 types: primary & secondaryprimary: no underlying disease or D/Osymptomatic: caused by metabolic D/O or neoplasm-may be normal, MR or >IQ
65 Megaloencephaly-Common Features h brain weight> 1600 gNormalgDeformed skull-varying levels of MR-abnormally large and heavy brain/headbrain weight: > 1600 gm. in adultgm. = normal-males affected more than girls
66 Megaloencephaly-Common Problems ID / DDSeizuresNeuro 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 #27Explain the difference between cultural-familial retardation and psychosocial disadvantage
69 Cultural-Familial Retardation IDMildNoPhysical disabilityD/TEnvironmental causesPoor prenatal careNutritionDiseaseToxinsSubnormal 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 retardationFamilial 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/#ixzz2qbVtya22The 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 peopleThe 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 factorsNo organic causeNot reversibleAbuse familyNeglect familyPsychosocial 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 #28Explain 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 vertebrae3 LevelsSpina Bifida OccultaMeningoceleMyelomeningocele
73 Spina bifida occulta Bones of the spine do not close But the spinal cord and meninges remain in placeAnd skin usually covers the defect
74 Meningocele Meninges protrude from the spinal canal But the spinal cord remains in place
75 MyelomeningoceleBoth the spinal cord and the meninges protrude from the spinal canalCo-morbidityHydrocephalusMyelomeningocele 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 defectMeningoceles, 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 BifidaMyelomeningocele 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
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 IDbirth injuries: deprived of oxygen, forceps injury, etc.Postnatal causes of MR:brain damage: result from infections & environmental hazardsinfections:encephalitis, meningitis (infection covering the brain caused by variety of viral or bacterial agents), & pediatric AIDSvaccinations reduce chances of IDmosquitoes also carry diseases that sometimes causes IDlead poisoning
83 Postnatal Brain damage: Infections TBI Encephalitis Meningitis vaccinationsmosquitoesLead poisoningTBIPerinatal causes of ID:premature birth weight: babies weighing less than 3.3 lbs will have a 10-15% risk of IDbirth injuries: deprived of oxygen, forceps injury, etc.Postnatal causes of MR:brain damage: result from infections & environmental hazardsinfections:encephalitis, meningitis (infection covering the brain caused by variety of viral or bacterial agents), & pediatric AIDSvaccinations reduce chances of IDmosquitoes also carry diseases that sometimes causes IDlead poisoning
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