Name
MENTAL RETARDATION
DESCRIPTION
DETAIL
CAUSES : 1. CONGENITAL CHROMOSOMAL DISORDERS - WILMS TUMOR-ANIRIDIA COMPLEX - MILLER-DIEKER SYNDROME - VELOCARDIOFACIAL SYNDROME - SMITH-MAGENIS SYNDROME - PRADER-WILLI SYNDROME - PSEUDOHYPOPARATHYROIDISM - ANGELMAN SYNDROME - LANGER-GIEDION SYNDROME - ALPHA-THALASSEMIA & MENTAL RETARDATION - TRISOMY 21 ( DOWN SYNDROME ) - TRISOMY 13 ( D) - TRISOMY 18 ( E ) - CRI DU CHAT DISEASE ( SHORT ARM DELETION-5 ) - XXXY & XXXXX SYNDROME - MYOTONIC DYSTROPHY - TUBEROUS SCLEROSIS - CONGENITAL NEPHROGENIC DIABETES INSIPIDUS - GLUCOSE-TRANSPORTER PROTEIN SYNDROME - MENKES KINKY HAIR SYNDROME - HYPOMELANOSIS OF ITO - INCONTINENTIA PIGMENTI - FRIEDREICH ATAXIA - COCKAYNE SYNDROME - MARINESCO-SJOGREN SYNDROME - NEUROFIBROMATOSIS - MUSCULAR DYSTROPHY ( DUCHENNE , BECKER MUSCULAR DYSTROPHY ) - PHOSPHOGLYCERATE KINASE DEFICIENCY ( GLYCOLYTIC DEFECT ) - MITOCHONDRIAL DNA DISORDERS OF MUSCLE - VISCERAL NEUROPATHY WITH BASAL GANGLION CALCIFICATION - GALACTOSEMIA 2. LYSOSOMAL STORAGE DISEASES - HURLER SYNDROME - SANFILIPPO DISEASE - MORQUIO DISEASE - TAY-SACHS DISEASE - SANDHOFFS DISEASE - NIEMANN-PICK DISEASE - GAUCHER DISEASE - FUCOSIDOSIS - ALPHA MANNOSIDOSIS - ASPARTYLGLUCOSAMINURIA - SIALIDOSIS - MUCOLIPODOSES-II ( I ) CELL DISEASE - MUCOLIPODOSES-III ( PSEUDO-HURLER POLYDYSTROPHY ) - KRABBE DISEASE - METACHROMATIC LEUKODYSTROPHY - MULTIPLE SULFATASE DEFICIENCY - WOLMAN DISEASE - FARBER DISEASE - LAURENCE-MOON-BIEDL SYNDROME - CONGENITAL FOLATE MALABSORPTION SYNDROME - LESCH-NYHAN SYNDROME 3. INHERITED AMINO ACID METABOLIC DISORDERS - PHENYLKETONURIA - MALIGNANT HYPERPHENYLALANINEMIA - TRYPTOPHANURIA - HISTIDINEMIA - UROCANIC ACIDURIA - HYPERGLYCINEMIA - HOMOCYSTINURIA - S-SULFO-L-CYSTEINEURIA - THIOSULFATURIA - GLUTARIC ACIDURIA - HYPERORNITHINEMIA - HYPERAMMONEMIA - HOMOCITRULLINURIAARGININEMIA - CITRULLINEMIA - HYPERVALINEMIA - HYPERLEUCINE-ISOLEUCINEMIA - CLASSIC BRANCHED CHAIN KETOACIDURIA - CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - LYSINURIA ( LYSINURIC PROTEIN INTOLERANCE ) 4. OTHERS - DIETARY COPPER DEFICIENCY IN INFANCY - DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY - WILLIAMS SYNDROME ( IDIOPATHIC HYPERCALCEMIA OF INFANCY ) - FAMILIAL SPASTIC PARAPLEGIA - LEAD POISONING - CHEDIAK HIGASHI SYNDROME - PAST ACUTE OR CHR MENINGITIS OR ENCEPHALITIS - CRETINISM - FETAL ALCOHOL SYNDROME - MOHR-TRANEBJAERG SYNDROME - FAMILIAL WILMS TUMOR - MULIBREY NANISM - BYLER DISEASE -------------------------------------------------------------------------- DIFFERENTIAL DIAGNOSIS β’ Brain tumors β’ Hearing and/or speech impairment β’ Infantile autism β’ Cerebral palsy β’ Emotional disturbance β’ Lack of environmental opportunities for appropriate developmentLABORATORY β’ Specific studies are available for those patients with identifi able genetic disease entities β’ Chromosome studies β’ Metabolic screens β’ Amino acid β’ Sugar substrates β’ Molecular studies, e.g., DNA SPECIAL TESTS . Individually administered measure of intellectual abilities . Measure utilized depends upon the age of the patient . Birth through 42 months: Bayley Scales of Infant Development-II . 2 years of age through adulthood: Stanford Binet (4th edition), Wechsler Scales . Preschool children: WPPSI-III . School age: WISC-III . Adults: WAIS-III, and an adaptive behavior scale. All patients need a measure of adaptive behavior. The Vineland Adaptive Behavior Scales are widely utilized. . Other measures are available; however, these are the most widely recognized and utilized measures of individual ability and adaptive behavior
TYPENOTES
APPROPRIATE HEALTH CARE β’ Advances in genetic sciences are generating new treatment options. Consult a genetics unit for both diagnosis and treatment options. β’ Some specialized care may be necessary based upon the etiology of the retardation β’ Care for the retarded is educational, not medical and should include early intervention PATIENT MONITORING Regular pediatric care POSSIBLE COMPLICATIONS Learning inappropriate behaviors EXPECTED COURSE/PROGNOSIS β’ Mild retardation: Social and communication skills appropriate for community functioning, basic job skills, and functional literacy β’ Moderate mental retardation: Speech defi cits, social awareness, personal care skills, i.e., dressing, feeding, washing, sheltered employment, group home living β’ Severe mental retardation: Limited speech and language, poor motor development, in need of supervision β’ Profound mental retardation: Neurological defect, poor cognitive social ability, absent speech, possible self harm, extended care β’ Specific etiologies (e.g., Down syndrome and fragile X patients) show a decline in cognitive and adaptive behavior scores
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
CPK ( MALE ), URINE ROUTINE, TSH, SERUM AMMONIA, COMPLETE BLOOD COUNT, BRAIN MAPPING, CSF EXAMINATION, PARATHYROID HORMONE ASSAY, MRI