Dr. Amanda Votruba, M.D. FAAP
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1 Dr. Amanda Votruba, M.D. FAAP Pediatrician with Methodist Physicians Clinic Board Certified in Pediatrics No disclosures Down s Syndrome: an Overview Dr. Amanda Votruba, M.D. FAAP dsaw.org Objectives Goal: More clear understanding of the problems associated with Down s Syndrome and the special management they require. -History and Incidence -Characteristic physical features and their implications -Problems associated with Down s syndrome and the management -Routine screening tests -Specific management issues in the newborn period and throughout their life time Down Syndrome First recognized in 1866 by John Langdon Down During this time period there were many theories of causality First reference to Down s Syndrome was 10 years later described as chromosomal condition It took until 1965 for it to be the accepted term. 1
2 John Langdon Down What is Down Syndrome? Down syndrome is a condition in which a person has an extra set of chromosomes Typically, people are born with 46 chromosomes Etiology Most are a full trisomy- nondisjunction, most common form (95%) Mosaics- are rare, mixture of two types of cells. Some are the usual 46, and some 47. (1%) Translocation- Total number of chromosomes is 46 but a full or partial copy of chromosome 21 attaches to another chromosome (4%) Etiology Translocation is inheritable 1/3 of the cases a parent is a carrier Genetic counseling is recommended Most frequent is Robertsonian translocation 2
3 Incidence by Age Group Diagnosis In Utero Physical characteristics Chromosomal analysis- necessary for confirmation FISH/karyotype Down syndrome features s3.amazonaws.com General: Hypotonia CNS: Mental deficiency Craniofacial: Brachycephaly, upslanting palpebral fissures, hypoplasia of frontal sinuses, small nose and epicanthal folds Eyes: Brushfield spots, myopia, cataracts Ears: small, hearing loss Dentition: hypoplasia and abnormal placement Neck: Appears short 3
4 Down s Syndrome Features Hands: Short metacarpals and phalanges, fifth finger hypoplasia, Simian crease, Feet: Wide gap between toes Pelvis: abnormal iliac crest Cardiac: Endocardial cushion defect Skin: Loose posterior neck, dry skin Smith s Recognizable Patterns of Human Malformations Physical characteristics of Down syndrome Up slanted palpebral Fissures -The outer corner of the eye will be turned up rather than down. Upslanted Palpebral fissures Other Eye Findings: Brushfield spots-white flecks that can be seen close to the periphery of the iris. -Sometimes described as stars 4
5 Epicanthal Folds Optho management Their eyes should be tested at birth and again at 1 year or sooner if concerns exist. By adulthood, 15% have cataracts Myopia is common Hearing Children with DS are at increased risk for hearing loss. Up to 80% Hearing should be tested at birth and again every 6 months in early childhood until normal hearing can be documented in both ears. Then, may go to yearly testing. Increased risk due to recurrent middle ear fluid and infections. (conductive loss) Treatment may be tubes Myringotomy tubes 5
6 Dentition Hypoplasia and irregular placement Delayed eruption Management early involvement of pediatric dentist. Good dental hygiene. Geneticdisorders.ifo Neurologic Hypotonia Gait disturbance Intellectual deficiency Developmental delay Seizures Psychiatric issues Cervical cord compression Dementia Leads to tendency to keep mouth open and protrude tongue May lead to feeding issues in newborn Hypotonia 6
7 Hypotonia Strength normalizes as children age. Level of impairment varies. Linguistic abilities affected disproportionately to overall cognitive abilities (Sivaswamy, L. 2013) Delayed spoken language Delayed potty trainingmost by 5 years Intellectual delay Developmental Delay Treatment: early specific therapies. Examples: physical therapy, occupational therapy, Early Intervention Parents should have high expectations of their children Seizures Epilepsy occurs in 1-13% (Sivaswamy, L. 2013) Infantile Spasms may occur in first year of life Treatment: Recognition Same as in the general population 7
8 Psychiatric Issues 18-38% Depression, ADHD, Oppositional Defiant Disorder, impulsive and disruptive behaviors Autism- occurs in 18% Cervical Cord Compression Children with DS have a 1-2 % risk of atlantoaxial instability Average age is 10.5 years Previous guidelines recommended cervical spine radiographs between 3-5 yo, the 2011 guidelines do not. Careful surveillance instead The special Olympics may still require them. Sports putting them at risk: soccer, football, and gymnastics Runragnar.com 8
9 Neurologic A neurologic exam should be performed yearly to evaluate for changes in tone Physical exam changes: brisk DTRs, up-going plantar response Parents should notify their physician of any changes in gait, arm or hand function, bowel or bladder control Dementia Early Alzheimer s- by age 40 almost all individuals have significant plaques and tangles More than 75% older than 65 years have Alzheimer s. 6 times that without. Endocrine Thyroid level is tested at birth in the Nebraska Newborn screen. It should be repeated at 6 months and 1 year Yearly after 50-60% develop hypothyroidism by adulthood Symboluk.co.uk 9
10 Cardiac Concerns 40-50% of children with DS may have a cardiac anomaly. Therefore, all infants with DS should have a screening echocardiogram Most common is an AV canal, second is isolated VSD and the Tetralogy of Fallot Major cause of early mortality Treatment: Diagnosis specific surgery % are severe requiring surgery in the first months of life Endocardial cushion defect Heart defect Respiratory System Physical exam finding may not be obvious in first days of life. Heart murmur is most typical finding or irregular or fast breathing. Untreated may result in feeding problems, cyanosis, increased chest infections Most common cause of hospitalization Increased lung infections Infections are more severe Craniofacial features add to issues. Narrowed nasopharynx, flattened midface, macroglossia, and airway size Airway abnormalities 10
11 Obstructive Sleep Apnea Obstructive Sleep Apnea- every child with Down syndrome should have a sleep study by the age of 4. Sleep apnea may lead to behavioral problems Increased strain on the heart over time Asthma Studies have been equivocal if there is an increased risk of asthma in DS GI Concerns Duodenal Atresia Second most common condition. 10% of children will have an abnormality Newborn issues: Duodenal atresia, tracheoesophageal fistula, Hirschsprung disease and imperforate anus Continued issues: Celiac, GERD, constipation If severe, may be diagnosed on prenatal ultrasound May present if first hours of life with emesis, possibly bilious, or failure to stool The diagnosis can be made with plain films with the presence of the double bubble sign Treatment- Decompression with NG or OG tube. Ultimately, is a surgical cure Without surgery may not survive 11
12 Double Bubble sign Imperforate Anus Frequently associated with Down syndrome. Completely blind rectum and usually 2 cm above perineal skin When properly operated on, good prognosis for bowel function Anal stenosis- less severe but may result in constipation. Treatment may be dilation but often requires surgery as well Imperforate anus Hirschsprung Disease Rare -2% An abnormality of the large bowel where nerve cells are missing Symptoms: In newborn-failure to pass stool Long term- chronic constipation, poor weight gain, and vomiting Diagnosis- exam, xray, biopsy Treatment-surgical 12
13 Celiac disease 5% will develop Celiac disease can present in many ways: diarrhea, constipation, poor weight gain, weight loss, behavior changes and abdominal pain Diagnosis-blood test then biopsy Treatment- removal of gluten Management- testing if symptoms present Musculoskeletal Hypoplasia of 5 th digit Simian Crease Ligamentous laxity Abnormal pelvis with shallow hip joint and flared iliac wings Short neck with loose folds. Lower bone density found in adults Simian Crease Simian Crease/ Sandal Foot Deformity 13
14 Hip Problems Hip instability 5-8% of joint instability due to hypotonia and ligamentous laxity Can result in subluxation of hip. Peak age 3-13 Symptoms: painful limp Diagnosis: xray Treatment: Immobilization and surgery Legg-Calve Perthes- loss of blood supply and the bone becomes weak and misshapen Symptoms: painless limp American Academy of Orthopaedic sugeons, AAOS.org Knee/Feet problems 20% of knee instability resulting in dislocation Braces for conservative management Surgery Often flat footed- orthotics may be helpful American Academy of Orthopaedic sugeons, AAOS.org Hematologic Issues: People with Down syndrome have a high risk of developing leukemia. Possibly as high as times the general population. (1%) Neonates and infants can have transient myeloproliferative syndrome. Exam findings include: hepatosplenomegaly, anemia, and thrombocytopenia. (occurs in 10%) 14
15 Management of Hematologic issues A CBC should be completed at birth. If normal no further work up. If a child ever has weight loss, pallor, fevers, or petechiae a CBC should be performed. Yearly CBCs General management Previous growth curves were made in 1988 In 2011, it was recommended to stop using the specialized growth curve and use the standard curve Currently, work is being done to establish a BMI chart General Management Aap.org has specific guidelines for each age group Wisdom from a pediatrician mom of Aaron-5 year old with Down Syndrome This is not a bad diagnosis! It comes with it s own set of worries but it also brings unbelievable joy, love, and faith! 15
16 References Nelson s Textbook of Pediatrics, Copyright 2000 Recognizable Patterns of Human Malformation, Smith s 1997 Down Syndrome, Pediatrics in Review, December 2013, Vol 34/ Issue 12 Gastrointestinal Issues in Children with Down Syndrome, Marder, Liz Alz.org Down syndrome and Alzheimer s disease 2015 Musculoskeletal Disorders In Down Syndrome, Leshin, L, 2013 American Academy of Orthopaedic sugeons, AAOS.org Down-syndrome.org Dseinternational.org Healthychildren.org Ndss.org Photo references Ndss.org- Page 8 Noahsdad.com-page 5 Theblessingofverity.com-page 13 16
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