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.
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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.
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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)
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Medications:
Levothyroxine 25 mcg once daily
Multivitamin with iron once daily
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Allergies:
Penicillin (rash)
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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.
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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.
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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.
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Labs/Studies:
Thyroid function tests (TSH, T4) - ordered today
Audiology referral for repeat hearing assessment
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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
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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.
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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.
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Time spent: 30 minutes
It was a pleasure to see this [child's age] [child's gender/pronouns] today, seen with [accompanying parent/guardian/other adult and their relationship to the child], who is affected by trisomy 21, and also with the following main issues: [other main issues discussed]. (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; omit any placeholder that's not mentioned.)
This child is full of many strengths, including: [strengths mentioned]. (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; omit any placeholder that's not mentioned.)
Chief Complaint:
[reason for visit, e.g. routine follow-up, annual physical, developmental concerns, new symptoms] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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History of Present Illness (HPI):
[reason for visit and summary of presenting concerns as reported by parent or caregiver] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely. Write in paragraphs of full sentences.)
[developmental concerns including delays, new milestones, or regression] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
[behavioural concerns including attention, sleep, or irritability] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
[medical concerns including hearing, vision, thyroid, cardiac, GI, or other issues] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
[school and therapy update including IEP status and PT/OT/ST services] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
[recent illness or hospitalisations] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Past Medical History:
[timing of trisomy 21 diagnosis, i.e. prenatal or postnatal] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
[congenital conditions present, such as atrioventricular septal defect, ventricular septal defect, hypothyroidism, atlantoaxial instability, Hirschsprung disease or GI anomalies, hearing impairment, vision concerns, sleep apnea, or celiac disease] (Only include conditions explicitly mentioned in the transcript, contextual notes or clinical note; list each condition on a new line.)
[other congenital, genetic, or medical conditions] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Medications:
[medications and supplements including name, dose, and frequency] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; list each on a new line.)
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Allergies:
[medication, food, and environmental allergies] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Developmental Screening:
Gross motor: [gross motor development and milestones] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Fine motor: [fine motor development and milestones] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Language: [language and communication development] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Social: [social and emotional development] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Services: [therapy and support services currently in place] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
School setting: [school setting and level of inclusion or support] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Review of Systems (ROS):
General: [general symptoms including energy, weight changes, or fever] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Cardiac: [cardiac symptoms including chest pain, palpitations, or cyanosis] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
ENT: [ENT symptoms including ear pain, hearing changes, or nasal congestion] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Respiratory: [respiratory symptoms including cough, wheeze, or shortness of breath] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
GI: [GI symptoms including constipation, diarrhoea, feeding issues, or abdominal pain] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
GU: [GU symptoms] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Endocrine: [endocrine symptoms including fatigue, weight changes, or thyroid concerns] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Neuro: [neurological symptoms including seizures, regression, or tone changes] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
MSK: [musculoskeletal symptoms including neck pain, joint laxity, or gait concerns] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Skin: [skin symptoms including rashes, dryness, or lesions] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Behaviour: [behavioural symptoms including aggression, anxiety, or self-injurious behaviour] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Physical Exam:
Vital Signs: [vital signs including HR, RR, BP, temperature, weight, height, and BMI] (Only include values explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
General: [general appearance, level of cooperation, and overall impression] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
HEENT: [head shape, fontanelle status if age-appropriate, ear canal appearance, eye findings including red reflex and strabismus, and throat including tonsil size and palate] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Neck: [neck range of motion and tenderness] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Heart: [cardiac exam findings including rate, rhythm, and murmurs] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Lungs: [respiratory exam findings] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Abdomen: [abdominal exam findings] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Extremities: [extremity exam findings including tone, clubbing, and cyanosis] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Neuro: [neurological exam including tone, reflexes, and gait if applicable] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Skin: [skin exam findings including rashes or lesions] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
Developmental Observations: [brief developmental observations made during the visit] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Labs/Studies:
[labs and studies ordered or reviewed, such as TSH/T4, CBC, hearing screen, vision screen, sleep study, or cervical spine x-rays] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; list each on a new line.)
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Assessment:
[diagnoses and clinical impressions, always including trisomy 21 as the primary diagnosis, followed by any additional active conditions such as developmental delay, hypothyroidism, cardiac conditions, or acute issues] (Only include conditions explicitly mentioned in the transcript, contextual notes or clinical note; list each on a new line.)
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Plan:
[management plan including specialist referrals such as audiology, ophthalmology, ENT, endocrinology, cardiology, or PT/OT/ST, labs ordered, medication adjustments, developmental referrals or IEP coordination, and family education or support resources provided] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; list each item on a new line.)
[follow-up interval and instructions] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
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Anticipatory Guidance:
[anticipatory guidance topics discussed, such as structured routine, therapy engagement, monitoring for thyroid dysfunction or hearing and vision changes, safe physical activity, and use of community and school supports] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; list each topic on a new line.)
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Time spent: [total time spent face-to-face in minutes] (Only include if explicitly mentioned in the transcript, contextual notes or clinical note; otherwise omit completely.)
