Down Syndrome

Paediatrician's Note - 1 November 2024 It was a pleasure to see this 3-year-old female today, seen with her mother, Mrs. Sarah Jenkins, who is affected by trisomy 21, and also with the following main issues: developmental delay, recurrent ear infections, and feeding difficulties. This child is full of many strengths, including: a cheerful disposition, strong engagement with her mother, and good eye contact. Chief Complaint: Routine follow-up for Down Syndrome, developmental concerns, and recurrent ear infections. --- History of Present Illness (HPI): Mrs. Jenkins reports that [patient's name] continues to make progress with her walking, now able to take several independent steps. She is using a few single words, mostly 'mama' and 'dada', and understands simple commands. Feeding has been a consistent challenge, with [patient's name] being a picky eater and often refusing solid foods. She has had three ear infections in the past four months, requiring antibiotic treatment. No new fevers or significant changes in overall health since the last visit. Developmental concerns include ongoing delays in expressive language and fine motor skills. Mother reports that [patient's name] recently learned to stack 3 blocks independently. Behavioural concerns include occasional fussiness during mealtimes and difficulty settling for naps. Medical concerns primarily involve recurrent otitis media and a history of congenital hypothyroidism, which is well-controlled on medication. Mother has noticed no changes in hearing or vision recently. No current constipation or diarrhoea, but feeding difficulties persist. [Patient's name] attends weekly physical therapy and speech therapy sessions. She is not yet in preschool, but her mother is looking into options for next year. No recent illnesses or hospitalisations. --- Past Medical History: Trisomy 21 diagnosis was made postnatally. Congenital conditions present: Atrioventricular septal defect (repaired at 6 months of age) Hypothyroidism (diagnosed at 2 months) Hearing impairment (mild bilateral sensorineural hearing loss) --- Medications: Levothyroxine 25 mcg once daily Multivitamin with iron once daily --- Allergies: Penicillin (rash) --- Developmental Screening: Gross motor: Takes several independent steps, still unsteady, can pull to stand and cruise along furniture. Fine motor: Stacks 3 blocks, attempts to use a spoon, pincer grasp developing well. Language: Uses 3-4 single words ('mama', 'dada', 'no'), babbles extensively, understands simple instructions. Social: Engages in peek-a-boo, waves bye-bye, enjoys interacting with familiar adults. Services: Weekly physical therapy (PT) and speech therapy (ST). School setting: Currently at home with mother, planning for a specialised pre-school next year. --- Review of Systems (ROS): General: Good energy levels, no reported weight changes or fever. Cardiac: No chest pain, palpitations, or cyanosis reported. ENT: No current ear pain or discharge, but history of recurrent otitis media. Mother reports no obvious changes in hearing. Respiratory: No cough, wheeze, or shortness of breath. GI: No constipation, diarrhoea, or abdominal pain. Persistent feeding difficulties, picky eater. GU: No urinary complaints. Endocrine: No overt signs of hypo- or hyperthyroidism, well-controlled on medication. Neuro: No seizures, regression, or tone changes observed by mother. MSK: No neck pain or concerns about joint laxity. Gait is wide-based and unsteady. Skin: No rashes, dryness, or lesions. Behaviour: Occasional fussiness during mealtimes, otherwise cheerful and engaging. --- Physical Exam: Vital Signs: HR 105 bpm, RR 24 breaths/min, BP 90/55 mmHg, Temp 36.8°C, Weight 12.5 kg (25th centile), Height 85 cm (10th centile), BMI 17.3 (75th centile). General: Alert, cheerful, and cooperative female, good eye contact, appears well-nourished and in no acute distress. HEENT: Head normocephalic, no fontanelle palpable. Ears with low-set, small auricles. Tympanic membranes dull but intact bilaterally. Nares clear. Oral mucosa moist, small mouth, prominent tongue. Uvula midline. No strabismus noted, red reflex present bilaterally. Neck: Supple, full range of motion, no tenderness. Heart: Regular rate and rhythm, S1/S2 normal, no murmurs appreciated. Lungs: Clear to auscultation bilaterally, no adventitious sounds, good air entry. Abdomen: Soft, non-tender, non-distended, bowel sounds normoactive, no hepatosplenomegaly. Extremities: Bilateral hypotonia, short digits with clinodactyly of 5th finger, single palmar crease present bilaterally. No clubbing or cyanosis. Full range of motion in all joints. Neuro: Generalised hypotonia, deep tendon reflexes 1+ bilaterally. Gait is wide-based and unsteady, takes several independent steps with good balance support. Skin: Warm and dry, no rashes or lesions. Developmental Observations: [Patient's name] smiled readily, made good eye contact, and responded to her name. She attempted to engage with toys, stacked blocks, and pointed to desired objects. --- Labs/Studies: Thyroid function tests (TSH, T4) - ordered today Audiology referral for repeat hearing assessment --- Assessment: 1. Trisomy 21 2. Global Developmental Delay (predominantly expressive language and fine motor) 3. Recurrent Otitis Media 4. Congenital Hypothyroidism (controlled) 5. Mild Bilateral Sensorineural Hearing Loss 6. Feeding Difficulties --- Plan: 1. Continue Levothyroxine 25 mcg daily; follow up on TSH/T4 results. 2. Continue weekly PT and ST. Consider referral for Occupational Therapy for feeding and fine motor skills. 3. Discussed options for ventilation tubes with mother given recurrent ear infections; referral to ENT for assessment. 4. Refer to Paediatric Dietician for feeding difficulties and nutritional counselling. 5. Provide resources for local Down Syndrome support groups and early intervention programmes. 6. Discussed school placement for next year; recommend a program with good developmental support. 7. Review audiology report once available. Follow-up interval and instructions: Return in 3 months for re-evaluation and review of lab/specialist reports. --- Anticipatory Guidance: Structured routine for consistent development and behaviour management. Continue active engagement in all therapies. Monitor for signs of thyroid dysfunction (fatigue, constipation, weight changes) and hearing/vision changes. Encourage safe physical activity and discuss precautions for atlantoaxial instability (if diagnosed). Emphasise the importance of utilising community and school supports for long-term development. --- Time spent: 30 minutes