Paediatric- Trisomy: Approach to Down Syndrome

Paediatric- Trisomy: Approach to Down SyndromeCreated OnApril 22, 2020Last Updated OnApril 22, 2020byadmin You are here: Main Clinical Examination Paediatric- Trisomy: Approach to Down Syndrome < All Topics Table of Contents History taking: Ask about patient’s information – name, age, gender and etc Ask about chief complaint and relevant history of presenting illness Ask about the risk factors for Down syndrome Ask about feeding history – to ensure adequate caloric intake Ask about prenatal diagnosis of Down syndrome Ask about gastrointestinal symptoms: Vomiting – GI tract abnormalities Bowel habits – constipation due to Hirschsprung disease Ask about developmental history Cognitive abilities Motor development Language (especially expressive skills) Social interaction Ask about other symptoms: Fainting episodes, palpitations or chest pain due to heart lesion Symptoms of sleep apnoea including snoring, restlessness during sleep, difficulty awaking, daytime somnolence, behavioural changes and school problems Symptoms of atlanto-axial instability – neck pain, limited neck mobility or head tilt, abnormal gait, muscle weakness, muscle spasm, incoordination, sensory deficits, bowel and bladder incontinence Ask about family history of Down syndrome Ask about history regarding any interventions or treatment done Ask about history of possible physical or sexual abuse Physical examination:  General examination – to look for dysmorphic features Head and neck Brachycephaly Flat facial profile/flat nasal bridge Upslanted palpebral fissures Prominent epicanthic folds Brushfield spots in iris (pigmented spots) Open mouth and protruding tongue Furrowed tongue Low-set small ears Flat occiput and third fontanelle Short neck with excessive skin at nape of neck Narrow palate Abnormal teeth Extremities Short broad hands Single palmar crease or Simian crease Incurved fifth finger (clinodactyly) Wide sandal gap between 1st and 2nd toes Hyperflexibility of joints Cardiovascular examination Bluish discoloration of the lips and mucosa underneath the tongue due to central cyanosis Features of heart failure due to underlying uncorrected heart defects Thrills and heart murmurs Congenital heart defects: Complete atrioventricular septal defect (CAVSD) – 37% Ventricular septal defect – 31% Atrial septal defect – 15% Partial AVSD – 6% Tetralogy of...

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