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,Click to edit Master title style,Click to edit Master text styles,Second level,Third level,Fourth level,Fifth level,*,*,*,Health Care Requirements for Individuals With Down Syndrome,Terrance D. Wardinsky, MD,Medical Director,Alta California Regional Center,Health Care Requirements for I,1,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,Dr. John Langdon DownSuperinte,2,History,John Landon Down 1866,Institutionalization 1,st,half of 20,th,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,HistoryJohn Landon Down 1866,3,General incidence 1/800,365,000 people with DS in USA,Bimodal incidence,Advancing maternal age with increase of incidenceAge 35:1/300 Age:40 1/100Age 45:1/25 Age:50 1/10,General incidence 1/800,4,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,Down Syndrome96% Nondysjunctio,5,Karyotype of Down Syndrome,Karyotype of Down Syndrome,6,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 Dow,7,Characteristic Features of Down Syndrome,Brushfield spots, strabismus, cataracts,Redundant folds at base of neck,Short digits & 5,th,finger clinodactyly,Single Transverse palmer crease & wide gap between 1,st,& 2,nd,toes,Cutis mammorata,Characteristic Features of Dow,8,Associated System Findings with Down Syndrome,Hearing loss,Hypothyroidism,Visual compromise,Obstructive sleep apnea,Recurrent infection,Congenital heart disease,Associated System Findings wit,9,Down Syndrome,Down Syndrome,10,Down Syndrome,Down Syndrome,11,Down Syndrome,Brushfield Spots,Transverse Palmer Crease,Down SyndromeBrushfield SpotsT,12,Down Syndrome,Down Syndrome,13,Anticipatory Guidance,Eye and Hearing-Annual,Dental-Biannual,Thyroid-Annual,Cardiac echo Birth,Celiac IgA antimycelial antibodies 2 Years or with symptoms,Plot on DS Growth Grids,Subluxation signs and symptoms,Anticipatory GuidanceEye and H,14,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,Cardiac40 50% CHD,15,Respiratory,Pulmonary vascular resistance,Respiratory upper & lower infection,Acute & chronic airway obstruction,Sleep apnea,Cor pulmonale,Flu and pneumovax vaccines,RespiratoryPulmonary vascular,16,Gastrointestinal,5 12% with GI obstructive lesions,Duodenal atresia most common,TE fistula,Pyloric stenosis,Meckels Diverticulum,Hirshsprung disease,Feeding intolerances,GE reflux,Constipation,Celiac disease (IgA anti-endomysium antibodies),Gastrointestinal5 12% with G,17,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,Feeding ConcernsInefficient su,18,Genitourinary,Concerns,UP junction obstruction,Hydronephrosis,Alteration in structure & maturation of kidneys,High serum urea/creatinine/uric acid,Hypospadius,Undescended teste,Genitourinary ConcernsUP junct,19,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 WBCs, polycythemia, leukopenia, thrombopenia,Hematology10% incidence myelo-,20,Immunologic,Upper & lower respiratory infections,T & B lymphocyte function,Autoimmunity,Thyroiditis, alopecia areata, arthritis, inflammatory bowel disease, diabetes,ImmunologicUpper & lower respi,21,Ocular,Cataracts 3%,Glaucoma,Strabismus,Nasolacrimal obstruction,Blepharitis,Keratoconus,Refraction abnormalities,OcularCataracts 3%,22,Ear, Nose & Throat,Small ear canals,Undeveloped ear ossicles,Sinusitis & rhinitis,Obstructive sleep apnea,Hearing loss,Tonsillectomy,Ear, Nose & ThroatSmall ear ca,23,Oral & Dental,Morphology of teeth,Hypoplasia, aplasia,Malocclusion,Tongue prominence & fissuring,Macroglossia,Oral & DentalMorphology of tee,24,Symptoms of Obstructive Apnea,Snoring,Unusual sleep routines,Daytime fatigue,Profuse sweating,Behavior disturbances,Treatment includes T&A, uvulopalatoplasty, or CPAP,Symptoms of Obstructive ApneaS,25,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,OrthopedicLow muscle tone & la,26,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,Symptoms of Spinal Cord Compre,27,Avoid Contact Sports,Tumbling,Diving,Butterfly stroke,Football,Soccer,Rugby,Certain warming-up exercises,Avoid Contact SportsTumbling,28,Infant Programs,Physical therapy & occupational therapy services are included in most early intervention programs for positioning, feeding, & motor strength exercises to support hypotonia.,Infant ProgramsPhysical thera,29,Dermatology,Cutis marmorata,Skin dryness & folliculitis,Recurrent skin infection,Alopecia areata,Sweat gland benign tumors; syringomas,Seborrhea,DermatologyCutis marmorata,30,Endocrine,Short stature,Hypothyroidism,Sexual maturity,Menstruation,Diabetes mellitus (1.4 10.6%),Growth hormone,EndocrineShort stature,31,Gynecology,Pap smears in sexually active,Non-sexually active bimanual exams,Screening abdominal ultrasounds,Mammograms,GynecologyPap smears in sexual,32,Reproduction,Male sterility,Female fertility,Gynecological reproductive health clinics,Birth control,Sterilization,ReproductionMale sterility,33,Neurologic,Hypotonia,Seizures,Senile plaques & neurofibrillary tangles,Alzheimers Disease,NeurologicHypotonia,34,Alzheimers 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,Alzheimers DiseaseA diagnosi,35,Language,Expressive vs. receptive,Underestimation of abilities,Total communication,Continued acquisition of skills,LanguageExpressive vs. recepti,36,Developmental,EI Programs,ADHD,Autistic Spectrum Disorder,Alzheimer dementia,DevelopmentalEI Programs,37,Psychiatric: Adolescents & Adults,20-25%,Depression & grief,Mania,Anxiety disorder,Adjustment disorder,Conduct disorder,Obsessions & compulsions,Schizophrenia,Psychiatric: Adolescents & Ad,38,Golden Rule,Rule out medical or dental health reason that may be confused as a mental illness and/or Alzheimers disease,Golden RuleRule out medical o,39,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 with Menta,40,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.)Neu,41,Medical Evaluations (cont.),Reflux: ESR, CBC, UGI & GI consult,Metabolic: Chem panels, liver, renal, glucose, lytes,Medication: Check dose & levels,Psychiatric: Depression, PTSD,Medical Evaluations (cont.)Ref,42,4 Ss for Alzheimer,Safety,Falls, wandering, bedsores,Stability,Of the environment,Social supports,Symptom treatment,Incontinence, C1-C2, sleep, seizures, medication,4 Ss for AlzheimerSafety,43,Alternative / Complementary Therapies,Glutamic acid,Dimethyl sulfoxide,Sicca cell,U-series,5-hydroxytryptophan,Nutritional supplements,Alternative / Complementary Th,44,Alternative / Complementary Therapies (Cont.),Megavitamins,Piracetam,Facilitated communication,Patterning: Doman-Delacato,Plastic Surgery,Alternative / Complementary Th,45,
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