Paediatric Developmental Assessment

Reason For Referral

4yo boy (Leo Vance, DOB: 12/03/2021, Medicare: 2849 10293 1) referred by GP Dr Sarah Jenkins for assessment of speech delay, impaired social communication, and repetitive behaviours.

Reports Reviewed

• Speech Pathology Assessment (Ms Claire Evans, 14/01/2025): Severe receptive and expressive language delay (CELF-P3 core language score < 2nd percentile).
• Early Childhood Educator Questionnaire (Goodstart Early Learning, 02/02/2025): Notes solitary play, minimal peer interaction, and distress with transitions.
• Child and Family Health Service (CaFHS) 3-year-old check (20/04/2024): Flagged speech and social concerns.

Background

Uncomplicated spontaneous singleton pregnancy. Maternal G2P2. No antenatal exposures. Born at 39+2 weeks via NVD at Women's and Children's Hospital, Adelaide. BW 3.42 kg, Apgars 9 and 9. Discharged Day 2. Unremarkable neonatal period.

Past Medical History

• Recurrent AOM (3 episodes in 2023, resolved with conservative management).
• Mild infantile eczema.
• Immunisations up to date per National Immunisation Program.
• No hospitalisations or surgeries.

Medications

• Melatonin (Circadin®) 2 mg PO nocte
• Cetirizine (Zyrtec®) 5 mg PO PRN

Allergies

NKDA. No known food or environmental allergies.

Family History

• Father (36yo): Diagnosed with ADHD in childhood.
• Mother (34yo): History of generalised anxiety disorder.
• Maternal cousin (8yo male): Diagnosed with ASD Level 2.
• Sister (7yo): Neurotypical, well.

Social History

Lives in suburban Adelaide with both biological parents and older sister. Father works as an electrician; mother works part-time in retail. English is the only language spoken at home. Supportive home environment; no DHS involvement.

Developmental History

• Gross motor: Sat at 6 months, crawled at 9 months, walked independently at 13 months. Currently runs, climbs, and pedals a tricycle well.
• Fine motor: Age-appropriate pincer grasp, scribbles, uses a spoon and fork, stacks 8+ blocks.
• Speech and Language: First words ("mama", "dada") at 18 months. No regression noted. Currently uses approx. 20–30 single words and occasional 2-word rote phrases ("want juice"). Uses hand-leading to request items. Echolalia present.
• Social/Play: Limited eye contact. Does not point to share interest (lack of joint attention). Prefers lining up toy cars and spinning wheels rather than functional or imaginative play.
• Self-care: Not yet toilet trained (resistant to sitting on toilet). Needs full assistance with dressing.

Hearing And Vision

• Audiology (10/11/2024, Australian Hearing): Normal bilateral tympanometry (Type A) and normal hearing thresholds on VROA.
• Vision: Passed CaFHS vision screening in April 2024. No clinical strabismus or visual concerns.

Sleep

History of prolonged sleep onset latency (up to 2 hours). Improved to 30 mins since commencing melatonin 2 mg nocte. Sleeps 20:00 to 06:00 without overnight waking. No snoring or apnoeas.

Eating

Restrictive diet driven by sensory preferences. Prefers beige, crunchy foods (crackers, chicken nuggets, dry cereal, toast). Refuses wet textures, mixed foods, and most fruits/vegetables. Gags if non-preferred foods are placed on his plate. Growth remains satisfactory.

Activities And Interests

Intense interest in spinning objects (wheels, ceiling fans) and lining up toy vehicles by colour. Enjoys water play and bouncing on the trampoline.

School

Attends daycare 3 days/week. Struggles with group mat time; wanders away. Does not engage in cooperative play with peers. Covers ears during loud songs or vacuuming. Due to commence preschool next year.

Behaviour And Functioning

Frequent meltdowns (1–2 daily, lasting 20–30 mins) triggered by unexpected routine changes, transitions, or sensory overload (e.g., supermarkets). Displays motor stereotypies including hand-flapping and toe-walking when excited or distressed. No self-injurious behaviour or aggression towards others.

Examination Findings

• Growth: Weight 17.2 kg (50th percentile), Height 104 cm (50th percentile), OFC 51 cm (50th percentile).
• General: Alert, well-nourished boy. Non-dysmorphic.
• Behavioural observation: Fleeting eye contact. Did not respond to name being called. Engaged in repetitive lining up of blocks during consult. Used mother's hand as a tool to open door. Occasional hand-flapping observed.
• ENT: Tympanic membranes translucent bilaterally. Oropharynx clear.
• Cardiorespiratory: HS dual, nil murmurs. Chest clear to auscultation.
• Abdomen: Soft, non-tender, no organomegaly.
• Neurology/Skin: Normal tone, power, and reflexes in all four limbs. Occasional toe-walking noted on gait assessment, able to walk heel-toe on request. No neurocutaneous stigmata on Wood's lamp exam.

Impression

4yo boy presenting with clinical features consistent with Autism Spectrum Disorder (likely Level 2 for both social communication and restricted, repetitive behaviours) and co-occurring Global Developmental Delay (predominantly affecting speech, language, and adaptive functioning).

Plan

1. Refer for formal multidisciplinary ASD diagnostic assessment (ADOS-2 and ADI-R) via clinical psychologist and speech pathologist.
2. Assist family with NDIS Early Childhood Early Intervention (ECEI) access request to fund ongoing Speech Pathology and Occupational Therapy (focusing on sensory integration, toileting, and feeding).
3. Baseline investigations to screen for organic aetiologies of developmental delay and dietary restriction: Chromosome microarray, Fragile X PCR, FBC, ferritin, electrolytes, TSH, lead level, and coeliac serology.
4. Continue melatonin 2 mg PO nocte for sleep maintenance.
5. Provide Autism SA parent support resources.
6. Review in clinic in 3 months with investigation results and formal assessment reports.