Developmental Delay Toddler

It was good to meet Leo Vance at the Pediatric Developmental Clinic on 14/05/2024, with his parents, Sarah and Mark Vance, present. Leo is 26 months old and was sent for review because of expressive speech delay and atypical social communication.

The initial developmental concern arose when Leo was 18 months old, identified by his primary care provider during a routine well-child check. Delays in communication and personal-social domains were noted on the Nipissing District Developmental Screen (NDDS) and Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R). Leo was subsequently directed to the Infant and Child Development Program (ICDP) and regional Preschool Speech and Language (PSL) services. At that point, he had only 2 single words and was not pointing to share interest. Because of the developmental situation, the parents had not yet enrolled him in a community daycare program or initiated toilet training.

Developmental Review

• Gross Motor: Sat unsupported at 6 months, crawled at 9 months, walked independently at 13 months. Currently runs well and climbs stairs two feet per step holding the railing.

• Fine Motor: Pincer grasp established by 10 months. Currently stacks 6 blocks, scribbles spontaneously with a fist grip, and uses a spoon with minimal spilling.

• Speech and Language: Babbled at 8 months, first word ("mama") at 16 months. Currently uses approximately 8 single words inconsistently, no 2-word phrases. Frequently uses hand-leading to request items rather than pointing or vocalizing. Understands simple 1-step commands only when paired with gestures.

• Cognitive: Demonstrates cause-and-effect play with pop-up toys and completes simple 3-piece inset puzzles. Lacks pretend or imaginative play; prefers lining up toy cars by size.

• Social and Emotional: Inconsistent eye contact and rarely responds to his name being called. Prefers solitary play and shows limited interest in peers at the park. Exhibits hand-flapping when excited and distress with minor changes in daily routine.

The parents do not report loss of previously acquired milestones.

Regarding other systems, he is a selective eater preferring crunchy, beige foods, though growth is unaffected. He sleeps 10 hours overnight with 1 daytime nap. Bowel movements occur daily and are soft; he remains in diapers.

Past History

Born at 39+2 weeks gestation via uncomplicated spontaneous vaginal delivery following a healthy pregnancy; no maternal medications or substance use. Birth weight was 3.4 kg. Normal newborn screen and passed newborn hearing screen bilaterally. History of 2 episodes of acute otitis media over the past year, treated medically.

Family History

Paternal uncle has a history of childhood speech delay, resolved by school age. No family history of autism spectrum disorder (ASD), intellectual disability, genetic syndromes, or hearing loss.

Immunizations: Up to date per Ontario public health schedule.

Medications: Colecalciferol (vitamin D3, D-Drops®) 400 IU PO daily.

Allergies: NKDA.

Social History

Lives in a single-family home with both parents and an older sister (age 5 years, neurotypical). Mother works as an accountant; father is a software engineer. English is the sole language spoken at home. No smoke exposure.

Examination

Weight 12.8 kg (50th percentile), height 88 cm (50th percentile), BMI 16.5 kg/m², head circumference 49 cm (50th percentile). Alert, well-nourished toddler in NAD. No dysmorphic features. Tympanic membranes clear bilaterally. Oropharynx clear, normal palatal movement. CVS: S1, S2 normal, no murmurs. Resp: GAEB, clear. Abdo: Soft, non-tender, no organomegaly. Neuro: Normal tone, bulk, and power throughout; DTRs 2+ and symmetric; gait normal. Skin: No neurocutaneous stigmata on Wood's lamp exam.

Behavioural Observation: Fleeting eye contact throughout the assessment. Did not respond to name on 3 attempts. Engaged repetitively with spinning the wheels of a toy truck; did not engage in joint attention when shown a bubble-blowing toy, instead using the examiner's hand to open the bottle.

Investigations: Audiology assessment (02/04/2024): Normal hearing sensitivity bilaterally, normal tympanometry.

Impression and Plan

Overall, Leo Vance is 26 months old and was referred for evaluation of expressive speech delay and atypical social communication. Clinical history and today's behavioural observations demonstrate deficits in social-emotional reciprocity, nonverbal communication, and repetitive patterns of behaviour, alongside significant expressive/receptive language delay, raising strong clinical suspicion for autism spectrum disorder (ASD). We discussed with the parents whether to proceed with a formal multidisciplinary ASD diagnostic assessment now or monitor progress following 6 months of targeted speech therapy. The parents chose to proceed directly with the formal diagnostic assessment and baseline genetic/metabolic workup. The intended next steps are to place a referral for an Autism Diagnostic Observation Schedule (ADOS-2) assessment, order chromosomal microarray, Fragile X testing, CBC, ferritin, and lead levels, and follow up in clinic in 4 months to review results.

Thank you for involving me in Leo Vance's care. Please contact me if any questions or concerns arise.