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Down Syndrome- A clinical Approach and Overview
- 1. Down Syndrome By Prof Dr.A.SAMUELDINESH,M.D Institute of internal medicine,MMC
- 2. TRISOMY 21:DOWN SYNDROME •Incidence: 1 in 733 live births • Incidence in India: 1 in 916 to 1 in 1150 live births • Most common genetic cause of moderate intellectual disability. • First described 1866 by John Langdon Down • Jean Lejeune and his colleagues identified the genetic cause in 1959.
- 3. HALL’S CRITERIA 1. Hypotonia 2.Poor moro’s reflex 3. Flat face 4. Mongolian slant of eyes 5. Small dysplastic ears 6. Joint hyperflexibility 7. Short neck, redundant skin 8. Clinodactyly 9. Simian crease 10. Pelvic dysplasia Probability of Down syndrome if > 6 cardinal signs are present.
- 4. FLAT FACE Face, Flat—Definition:Absence of concavity or convexity of the face when viewed in profile Brachycephaly—Definition: Cephalic index greater than 81% objective OR Apparently shortened anteroposterior dimension (length) of the head compared to width.subjective BRACHYCEPHALY Occiput, Flat—Definition: Reduced convexity of the occiput
- 5. LOW SET EARS Definition:Upper insertion of the ear to the scalp below an imaginary horizontal passing through the inner canthi and extend that line posteriorly to the ear . objective Single transverse crease that runs across the palm of the hand CLINODACTYLY SIMIAN CREASE Definition: A digit that is laterally curved in the plane of the palm. subjective The curvature in this term is restricted to the phalanges and does not refer to deviation at the MCPJ/MTPJ
- 6. Epicantal folds Upslanting ofeyes Flat nasal bridge Flat face Protruded tongue FACIAL FEATURES OF A DOWN SYNDROME CHILD
- 7. COMORBIDITIES OF DOWNSYNDROME CONGENITAL HEART DISEASE -40-60% CONGENITAL ABNORMALITIE S OF THE GI TRACT-4.5-12% LIMB DEFECTS -5% URINARY MALFORMATIONS -2.8% Atrioventricular canal defect- most common 70% VSD- 28% TOF-7.8% PDA-43% ASD Tracheoesopha gageal fistula-1.3% Pyloric stenosis Duodenal atresia-0.7% Annular panceas Aganglionic megacolon-1% Syndactyly Club foot Polydactyly Vesico-urethral reflux Megaureter Extrophy of bladder Horseshoe kidney CONGENITAL CATARACTS- 3-9% NEONATAL PERIOD:
- 8. VISUAL IMPAIRMENT AUDIOLOGIC DYSFUNCTION SEIZUREDISORDER- 2.6-8.8% THYROID DISORDERS-3-50% Refractive errors-70%, most common is myopia Strabismus-50% Congenital nystagmus-35% Blocked lacrimal duct-20% conductive hearing loss- 60-80% Sensorineural -4-9% GTCS- 8.1% Infantile spasms-0.6-18% Hypothyroidsim- 20% Hyperthyroidism INFECTIONS NUTRITION: PERIDONTAL DISEASE: ATLANLOAXIAL AND ATLANTOOCCIPITAL INSTABILITY-10-30% Respiratory tract infections Otitis media Poor weight gain and feeding issues Increased weight gain SLEEP APNOEA 77-80% CHILDHOOD
- 9. ADOLESCENCE: ADULTHOOD: □Adolescent development ▪Secondarysexual characters similar ▪Average onset of menstruation 12.5 years, regular menstrual cycles, ▪Ovulation - 39% □Increased weight gain □Skin infections-50-60% □Psychiatric disorders ▪Depressive disorders ▪Conduct disorders ▪Adjustment problems □Acquired cataracts-30-60% □Hypothyroidism-50% □Mitral valve prolapse □Hearing loss □Alzheimer disease-15-25%
- 10. •DOWN SYNDROME •GASTRO- •INTESTINAL •ALZHEIMER’S •LEUKAEMIA APP (amyloid precursorprotein) BACE2 (beta secretase2) PICALM (phosphatidlyinositol binding clathrin assembly protein) APOE (apolipoprotein E) CRELD1 (cysteine rich EGF like domain 1) GATA1 JAK2 (Janus kinase 2) DSCAM •HEART DEFE (d Co Tw S n syndrome cell adhesion molecule) CAUSATIVE GENES IN VARIOUS CONDITONS
- 11. CLINICAL FEATURES ININDIA CRANIOFACIAL: >50% CONGENITAL HEART DISEASE-18.3%-60% GASTROINTESTINAL ANOMALIES- 1.3-12% Epicanthic fold -60-93.7% Brachicephaly -90.6% Flat nasal bridge-84.2% Upward angle of eyes-80-83.2% Sandle gap-45-81.1% Clinodactyly-30-77.9% Small nose-74.7% Short broad neck-72.6% Single palmar crease-30-61.1% Increased nuchal skin fold-35-61.1% Fissured tongue-52.6% HYPOTONIA-76.3% Endocardial Cushion Defect-70% VSD-25.8% TOF-15.5% ASD-12.1% Imperforate anus-42.8% Hirshprung disease-28.5% Duodenal atresia-14.2% Morgagni hernia-14.2% HEMATOLOGICAL ABNORMALITIES-6.2% DERMATOLOGICAL MANIFESTATIONS: Transient myeloproliferative disorder-20% Acute leukaemia-26% Dual deficency anaemia-13% Myelofibrosis-6.6% Idiopathic thrombocytopenia-6.6% Lichenification-52.6% Dental anomaly-38.8% Fine sparse hair-27.4% Delayed dentition-25.3% OPHTHALMOLOGIC- Hypertelorism-33.9% Nystagmus-3.2% Brushfield spots-3.2% Squint-2.7%
- 12. KARYOTYPE OF TRISOMY21 FISH
- 13. MANAGEMENT • Examination andreview of the phenotype at first visit. • Confirmation and diagnosis using: □Karyotype analysis □FISH • Early detection of various co-morbidities. • Early intervention and educational therapy. • Growth monitoring using specific Down syndrome growth charts
- 14. • Treatment therapies □physicaltherapy including activities and exercises □Speech and language therapy □Occupational therapy □Emotional and behavioral therapies • Drugs and supplements • Assisted devices □Amplification devices for hearing problem □Bands that help with movement □Special pencils, computers etc
- 15. SYSTEM DRUGS AND SUPPLEMENTSIN DOWN SYNDROME DRUG RESULT STUDIES CHOLINERGIC DONEPEZIL Improvement in language ability heller,2003 Improvement in daily function PRASHER,2004;Kishani ,1999;Kondoh,2011 Reduced dementia scores Lott,2002 RIVASTIGMINE No significant cognitive improvement Spiridiglizzi,2016 DYRK1A INHIBITION EPIGALLACECHIN-3-G ALLATE Rescue cortico-hippocampal-d ependent leaning and memory deficiets De la Torre,2014;pons-espin al,2013;Stagni,2017 GLUTAMANERGIC MEMANTINE No detectable benefit Mohan,2009 Improvement in episodic memory Broada,2012
- 16. NEW ADVANCES • Digitalanalysis of selected regions (DANSR) sequences loci only from target chromosomes. • Single nucleotide polymorphisms (SNPS) alleviate chromosome to chromosome amplification variability. • X chromosome silencing by Xist non coding RNA. • Various drugs are under trial.
- 17. TAKE HOME MESSAGE •NDSS uses the preferred spelling, Down syndrome, rather than Down’s syndrome. • Life expectancy for people with Down syndrome has increased dramatically in recent decades –from 25 in 1983 to 60 today. • Attempts to be made to identify cases in the neonatal period. • Periodic follow-up and management of specific conditions. • Quality educational programs, a stimulating home environment, good health care and positive support from family, friends and the community enable people with Down syndrome to lead fulfilling and productive lives.