P020A Developmental Disabilities Mrs. Elizabeth Keele, RN

P020ADevelopmental Disabilities

Mrs. Elizabeth Keele, RN

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

Phenylketonuria

• AKA:– PKU

• Gene on chromosome 12– maybe 4 & 11

• Most common inborn error of metabolism

• Incidence– 1:10,000 in USA– carrier 1:50

Phenylketonuria

• Cannot breakdown phenylalanine – h phenylalanine – toxic to CNS

• Screening test – Guthrie test

• Screening timeline– After first 24 hrs. or

before 7-14 days

PhenylketonuriaCommon Features

• Appear – 7-10 days after birth

• ID– if not treated early

• Blond & fair• Musty odor• Microcephaly

PhenylketonuriaCommon Problems

• Vomiting• Irritability• Dry skin / Rash• Seizures

PhenylketonuriaCommon Problems

• “Maternal PKU”

PhenylketonuriaCommon Problems

• If noncompliant with diet – lower IQ– Learning disabilities– behavior problems– Tremors– Eczema– Impaired

communication

PhenylketonuriaCommon Treatment

• TREATABLE!!!!• Low-protein

/phenylalanine diet • Monitor blood

phenylalanine levels• Skin care • Symptom tx

PhenylketonuriaCommon Treatment

• Prevent maternal PKU by – adhering to diet – three months

before/during pregnancy

Galactosemia

• Chromosome 9• Missing liver enzyme– can’t digest milk-

products– Galactose

• Incidence – 1:20,000-1:60,000 live

births

Glactosemia - Pathophysiology

• If an infant with galactosemia is given milk, – Galactose – Toxic levels– Damage

• Liver• Brain• Kidneys• Eyes

GalactosemiaCommon Features

• S&S appear quickly– Vomiting– Jaundice– Lethargy– Irritability– Seizures

• ID is preventable• S&S may be due – E. coli.

GalactosemiaCommon Problems

• Severe ID–Aminoaciduria–Amino acids in

blood • Hepatomegaly– Enlarged liver

• Ascites• Hypoglycemia

If not treated…

• Cataracts• Cirrhosis of the liver• Death • Delayed speech • i ovarian failure• Intellectual disability• E. coli sepsis• Tremors and

uncontrollable motor functions

GalactosemiaCommon Treatment

• Galactose-free diet– life-long

• Calcium supplements

Tay-Sach’s Disease

• Chromosome 15 • Incidence:– 1:30 Jews– 1:270 general population

Tay Sach’s

• Body lacks Hexosamindase A

• h Ganglioside • Nerve and brain cell

destruction • Deathmosis

Tay-Sach’s DiseaseCommon Features

• Appear – about 3-6 months

• Deaf & blind• i muscle tone• Irritable • Paralysis• Seizure

Tay-Sach’s DiseaseCommon Problems

• No cure or treatment• Death by 5 yrs

Tay-Sach’s DiseaseCommon Treatment

• Supportive care• Grief counseling

Hurler’s Syndrome

• AKA:– Gargoylism– Hunter’s

• Cannot breakdown sugar molecule– Glycosaminoglycans

Hurler’s SyndromeCommon Features

–h Muccopolysaccharides /Glycosaminoglycans–Symptoms appear • “Normal” birth• @ 2 yrs

Hurler’s SyndromeCommon Features

• Claw hand• i growth• Heart valve problems• Joint Disease• Thick, coarse facial

features • ID - progressive

Hurler’s SyndromeCommon Problems

• Dwarfism & kyphosis

• Deaf• Corneal clouding• Cardiac • ID

Hurler’s Syndrome-Common Treatment

• Supportive care• Prognosis–Poor

Lesch-Nyhan Syndrome

• AKA – Hyperuricemia– Lip-Biting Syndrome

• X-linked recessive• Incidence – 1:100,000 males

Lesch-Nyhan Syndrome

• Lack enzyme needed to recycle purines

• h uric acid • S&S appear – by 3-6 months

Lesch-Nyhan Syndrome- Common Features

• h uric acid level• Progressive ID• Compulsive, self-

destructive behavior

Lesch-Nyhan SyndromeCommon Problems

• Gout• Kidney stones• Self-mutilation– Lips, mouth, tongue,

fingers

Lesch-Nyhan Syndrome-Common Treatment

• Rx to reduce uric acid– Allopurinol

• Behavior modification• Hydration• Safe environment

Gaucher’s Disease

• Incidence – 1:1,000 Jews

• Chromosome 1• Various types

Gaucher’s Disease-Common Features

• Glucocerebroside (lipid) accumulates in visceral organs

• S&S appear– Different ages

Gaucher’s Disease-Common Features

• Progressive neurological deterioration

• Affects– Liver– Spleen– Lungs– Bone marrow– Brain

Gaucher’s Disease-Common Problems

• Progressive neurological problems

• ID• Bone/joint pain • Type I fatal

Gaucher’s Disease-Common Treatment

• Genetic counseling • Enzyme

replacement therapy

Niemann-Pick Disease

• Gene on chromosome 11

• Incidence – 1:450 Jews– 1:100,000 gen. Pop.

• Can’t metabolize sphingomyelin

Niemann-Pick Disease -Common Features

• h Sphingomyelin • Lipid storage

disease • Cell death &

organ failure

Niemann-Pick Disease -Common Problems

• ID • Progressive motor

skills loss• Enlarged

liver/spleen – jaundice

• S&S r/t –organs affected

Niemann-Pick Disease -Common Treatment

• Supportive & symptomatic• Genetic

counseling

Wilson’s Disease

• Gene on chromosome 13

• Can’t metabolize– copper

• S&S appear –5 -35 yrs

Wilson’s Disease-Common Features

• h Copper• Affects –Liver–CNS–Kayser-Fleischer

rings

Kayser-Fleischer Rings

Wilson’s Disease-Common Treatment

• i Copper diet • water supply

Congenital Hypothyroidism (Cretinism)

• AKA – Congenital

Hypothyroidism

• absence/deficiency of– thyroid hormone

• Early diagnosis critical to prevent ID

• Dx tests: – T3, T4, TSH

Congenital Hypothyroidism (Cretinism)-Common Features

• Dwarfism• Large tongue, • Low metabolic rate• Intolerance to cold

Congenital Hypothyroidism (Cretinism)-Common Problems

• ID• Poor feeding, • Constipation• Short

Congenital Hypothyroidism (Cretinism)-Common Treatment

• Early dx• Replace – Thyroid hormone

Course Objective #24

• Describe features of the following multiple etiology congenital disorders:–Cornelia de Lange Syndrome–Laurence-moon syndrome

Cornelia de Lange Syndrome

• AKA – Brachmann-de Lange

• R/T chromosome 3

Cornelia de Lange Syndrome-Common Features

• Microcephaly• Hirsutism• Low birth weight – failure to thrive

• Short stature• ID – – Severe

• Clinodactyly,• Syndactyly• Cleft palate

Cornelia de Lange Syndrome-Common Problems

• ID• Self-mutilation• Behavior problems• Seizures• Cleft palate• Hearing loss & speech

delay

Cornelia de Lange Syndrome-Common Treatment

• GH• Communication

aides• Special

education• Behavior

modification

Laurence-Moon Syndrome

• Genes on chromosomes– 11, 13, 15, 16

• Incidence – :13,500 Arabs in Kuwait– 1:160,000 gen. pop

Laurence-Moon SyndromeCommon Features

• Gen. obesity • Dwarfism• Skeletal defects• Progressive vision

problems• Hypogenitalism

Laurence-Moon Syndrome-Common Problems

• ID • Blindness• Kidney & cardiac

disorders• Speech problems• Syndactyly• Polydactyly

Laurence-Moon Syndrome-Common Treatment

• Diet• Visual aides• SLP • Kidney care • Surgery – to remove extra

digits

Course Objective #25

• Differentiate between microcephaly and macrocephaly

Microcephaly

• Causes

Microcephaly-Common Features

• Small head

Microcephaly-Common Problems

• ID• Strabismus• Hypertonia• Seizures• Behavior problems

Microcephaly-Common Treatment

• Early intervention• Anticonvulsant

medication

Shunt

Megaloencephaly• 1o – no underlying disease

• 2o – D/T metabolic D/O

• ID– May be normal, MR or

>IQ

Megaloencephaly-Common Features

• h brain weight– > 1600 g

• Normal– 1350-1400 g

• Deformed skull

Megaloencephaly-Common Problems

• ID / DD• Seizures• Neuro deficits

Megaloencephaly-Common Treatment

• Symptomatic treatment

Course Objectives #27

• Explain the difference between cultural-familial retardation and psychosocial disadvantage

Cultural-Familial Retardation

• ID– Mild

• No – Physical disability

• D/T– Environmental causes

• Poor prenatal care• Nutrition• Disease• Toxins

Psychosocial ID

• D/T– psychosocial factors– No organic cause

• Not reversible

• Abuse family• Neglect family

Course #28

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

Spinal Bifida

Pathophysiology• Congenital Neural Tube

defect• Incomplete closure of the

vertebrae• 3 Levels

– Spina Bifida Occulta– Meningocele– Myelomeningocele

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

Meningocele

• Meninges protrude from the spinal canal• But the spinal cord remains in place

Myelomeningocele

• Both the spinal cord and the meninges protrude from the spinal canal• Co-morbidity–Hydrocephalus

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

Spinal Bifida

Etiology• Idopathic• Folic acid deficiency

during pregnancy– Esp 1st month

Spinal Bifida

Diagnosis• Ultrasound• h Alpha fetoprotein

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

Course Content #29

• Identify non-genetic biological causes of development disabilities factors that are required–Prenatally–Perinatally–Postnatally

Prenatal

• Toxic substances• Infection

Perinatal

• Premature • Birth injuries– Deprived of O2– Forceps – Nuchal chord

Postnatal

• Brain damage: – Infections• Encephalitis• Meningitis– vaccinations

• mosquitoes • Lead poisoning

– TBI

• Prenatal – Toxic substances (drugs, alcohol)– Infection

• Perinatal– Delivery complications

• Postnatal– Head Injury– Infection