Panel for Down Syndrome

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Information about Panel for Down Syndrome

Published on November 29, 2007

Author: Cinderella



Health Care Requirements for Individuals With Down Syndrome:  Health Care Requirements for Individuals With Down Syndrome Terrance D. Wardinsky, MD Medical Director Alta California Regional Center Dr. John Langdon Down:  Dr. John Langdon Down Superintendent of Earlswood Asylum for Idiots, Surrey (1858-68) “Ethnic” classification of congenital idiocy: Mongolism Distinguished from cretinism (hypothyroidism) “Down Syndrome” since 1961 History:  History John Landon Down 1866 Institutionalization 1st half of 20th century Eugenics movement 1950 National Association for Retarded Children (ARC) 1960 JFK 1973 National Down Syndrome Congress 1979 National Down Syndrome Society Public Education Laws 1975 to Present Slide4:  General incidence 1/800 365,000 people with DS in USA Bimodal incidence Advancing maternal age with increase of incidence Age 35:1/300 Age:40 1/100 Age 45:1/25 Age:50 1/10 Down Syndrome:  Down Syndrome 96% Nondysjunction 2-3% Translocation 1% Mosaicism ALWAYS OBTAIN A KARYOTYPE Many genes identified on chromosome 21 SODI superoxide dismutase,COL6A heart defects, ETS2 skeletal & leukemia, APP amyloid precursor protein and Alzheimer disease Karyotype of Down Syndrome:  Karyotype of Down Syndrome Characteristic Features of Down Syndrome:  Characteristic Features of Down Syndrome Hypotonia and laxity Hypoplastic midface with brachycephaly and relative microcephaly Depressed nasal bridge & epicanthal folds Small oral cavity with protuberant tongue Characteristic Features of Down Syndrome:  Characteristic Features of Down Syndrome Brushfield spots, strabismus, cataracts Redundant folds at base of neck Short digits & 5th finger clinodactyly Single Transverse palmer crease & wide gap between 1st & 2nd toes Cutis mammorata Associated System Findings with Down Syndrome:  Associated System Findings with Down Syndrome Hearing loss Hypothyroidism Visual compromise Obstructive sleep apnea Recurrent infection Congenital heart disease Down Syndrome:  Down Syndrome Down Syndrome:  Down Syndrome Down Syndrome:  Down Syndrome Brushfield Spots Transverse Palmer Crease Down Syndrome:  Down Syndrome Anticipatory Guidance:  Anticipatory Guidance Eye and Hearing-Annual Dental-Biannual Thyroid-Annual Cardiac echo @ Birth Celiac IgA antimycelial antibodies @ 2 ½ Years or with symptoms Plot on DS Growth Grids Subluxation signs and symptoms Cardiac:  Cardiac 40 – 50% CHD Endocardial cushing defects SBE prophylaxis 50+% MVP (mitral valve prolapse) All infants & children with Down syndrome should undergo evaluation by a pediatric cardiologist including an echocardiogram by 3 months Respiratory:  Respiratory Pulmonary vascular resistance Respiratory upper & lower infection Acute & chronic airway obstruction Sleep apnea Cor pulmonale Flu and pneumovax vaccines Gastrointestinal:  Gastrointestinal 5 – 12% with GI obstructive lesions Duodenal atresia most common TE fistula Pyloric stenosis Meckel’s Diverticulum Hirshsprung disease Feeding intolerances GE reflux Constipation Celiac disease (IgA anti-endomysium antibodies) Feeding Concerns:  Feeding Concerns Inefficient suck & low tone Oral-motor coordination Lax muscles, mid-face hypoplasia, small airway space, tonsillar hypertrophy 10% lower metabolic weight Obesity Feeding & nutritional assessments Genitourinary Concerns:  Genitourinary Concerns UP junction obstruction Hydronephrosis Alteration in structure & maturation of kidneys High serum urea/creatinine/uric acid Hypospadius Undescended teste Hematology:  Hematology 10% incidence myelo-proliferative disorder in newborn period. Transitory but may develop into megakaryocytic leukemia. 10-30 fold increase in leukemia ALL & ANLL Macrocytosis, hyposegs of WBC’s, polycythemia, leukopenia, thrombopenia Immunologic:  Immunologic Upper & lower respiratory infections T & B lymphocyte function Autoimmunity Thyroiditis, alopecia areata, arthritis, inflammatory bowel disease, diabetes Ocular:  Ocular Cataracts 3% Glaucoma Strabismus Nasolacrimal obstruction Blepharitis Keratoconus Refraction abnormalities Ear, Nose & Throat:  Ear, Nose & Throat Small ear canals Undeveloped ear ossicles Sinusitis & rhinitis Obstructive sleep apnea Hearing loss Tonsillectomy Oral & Dental:  Oral & Dental Morphology of teeth Hypoplasia, aplasia Malocclusion Tongue prominence & fissuring Macroglossia Symptoms of Obstructive Apnea:  Symptoms of Obstructive Apnea Snoring Unusual sleep routines Daytime fatigue Profuse sweating Behavior disturbances Treatment includes T&A, uvulopalatoplasty, or CPAP Orthopedic:  Orthopedic Low muscle tone & laxity of joints Atlantoaxial & atlanto-occipital subluxations Lateral x-rays of neck & MRIs Subluxation of hips & kneecaps Pronation of feet & flat feet Scoliosis Avoid Trampolines Symptoms of Spinal Cord Compression:  Symptoms of Spinal Cord Compression Neck pain Torticollis (neck tilt) Pain of upper extremities Weakness of upper & lower extremities Back pain or leg radiating pain  reflexes & spasticity lower ext. Bowel-bladder dysfunction Avoid Contact Sports:  Avoid Contact Sports Tumbling Diving Butterfly stroke Football Soccer Rugby Certain warming-up exercises Infant Programs:  Infant Programs Physical therapy & occupational therapy services are included in most early intervention programs for positioning, feeding, & motor strength exercises to support hypotonia. Dermatology:  Dermatology Cutis marmorata Skin dryness & folliculitis Recurrent skin infection Alopecia areata Sweat gland benign tumors; syringomas Seborrhea Endocrine:  Endocrine Short stature Hypothyroidism Sexual maturity Menstruation Diabetes mellitus (1.4 – 10.6%) Growth hormone Gynecology:  Gynecology Pap smears in sexually active Non-sexually active bimanual exams Screening abdominal ultrasounds Mammograms Reproduction:  Reproduction Male sterility Female fertility Gynecological reproductive health clinics Birth control Sterilization Neurologic:  Neurologic Hypotonia Seizures Senile plaques & neurofibrillary tangles Alzheimer’s Disease Alzheimer’s Disease A diagnosis of exclusion with a progressive functional decline:  Alzheimer’s Disease A diagnosis of exclusion with a progressive functional decline Loss of self care & job skills Loss of verbal abilities Withdrawal and aggressive behavior Change in sleep patterns Gait apraxia Progressive memory loss Incontinence of bladder and bowel Seizures Language:  Language Expressive vs. receptive Underestimation of abilities Total communication Continued acquisition of skills Developmental:  Developmental EI Programs ADHD Autistic Spectrum Disorder Alzheimer dementia Psychiatric: Adolescents & Adults:  Psychiatric: Adolescents & Adults 20-25% Depression & grief Mania Anxiety disorder Adjustment disorder Conduct disorder Obsessions & compulsions Schizophrenia Golden Rule:  Golden Rule Rule out medical or dental health reason that may be confused as a mental illness and/or Alzheimer’s disease Medical Evaluations with Mental Status Change:  Medical Evaluations with Mental Status Change Anemia: FE / B12 / Folic Acid /CBC Thyroid: T4 / TSH PICA: Pb (lead) Lytes & glucose: Ca, Lytes, Chem Panels Medical Evaluations (cont.):  Medical Evaluations (cont.) Neuro: MRI, CT, Sleep Study, O2 Sats, R/O subdural, hydrocephaly, seizure, stroke, spinal cord compression, TIE, degenerative changes Dental: Oral exam with unusual behavior, i.e. hand biting, head rocking, jaw grabbing Medical Evaluations (cont.):  Medical Evaluations (cont.) Reflux: ESR, CBC, UGI & GI consult Metabolic: Chem panels, liver, renal, glucose, lytes Medication: Check dose & levels Psychiatric: Depression, PTSD 4 S’s for Alzheimer:  4 S’s for Alzheimer Safety Falls, wandering, bedsores Stability Of the environment Social supports Symptom treatment Incontinence, C1-C2, sleep, seizures, medication Alternative / Complementary Therapies:  Alternative / Complementary Therapies Glutamic acid Dimethyl sulfoxide Sicca cell U-series 5-hydroxytryptophan Nutritional supplements Alternative / Complementary Therapies (Cont.):  Alternative / Complementary Therapies (Cont.) Megavitamins Piracetam Facilitated communication Patterning: Doman-Delacato Plastic Surgery

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