Neurodevelopmental Diagnostic Summary

Neurodevelopmental Diagnostic Summary Referral Information: Referred by Dr. Sarah Jenkins, General Practitioner, due to concerns regarding patient's significant developmental delays in language and social communication, as well as repetitive behaviours noted by parents and crèche staff. The GP requested a comprehensive neurodevelopmental evaluation to rule out Autism Spectrum Disorder (ASD). Presenting Concerns: Patient, a 3-year-old male, presents with delayed expressive and receptive language, limited eye contact, and difficulties engaging in reciprocal play. Parents report onset of these concerns around 18 months of age, with behaviours becoming more pronounced in group settings like crèche. He frequently lines up toys and experiences distress with changes in routine. These issues significantly impact his ability to interact with peers and follow instructions at crèche. Developmental History: Gross motor: Sat independently at 9 months, walked at 18 months. Fine motor: Difficulty with pincer grasp and manipulating small objects; uses whole-hand grasp predominantly. Language: First words at 24 months, now uses approximately 10-15 single words; echolalia present. Social: Avoids eye contact, rarely responds to name, prefers solitary play. Play: Engages in repetitive play (spinning wheels, lining up objects). Adaptive skills: Requires significant assistance with dressing and feeding. Feeding: Picky eater, strong preferences for certain textures. Toileting: Not yet toilet trained. Sleep: Difficulty falling asleep, frequent night awakenings. Caregiver observations from Road to Health Booklet align with reported delays. Medical and Perinatal History: Born in a private hospital via spontaneous vaginal delivery at 38 weeks gestation. No significant birth complications. No NICU admission. Immunisation status up to date. No history of serious illnesses or hospital admissions. No chronic conditions or regular medication use. Family and Social History: Mother reports a paternal uncle with a history of learning difficulties. Patient lives with both parents and a 6-month-old sibling. Primary language spoken at home is English. No reported exposure to community or domestic violence. Stable family unit. Educational History: Attends a private crèche 3 days a week since 2 years of age. Crèche reports difficulties with social interaction, following group instructions, and engagement in structured activities. No formal academic reports available at this age, but crèche staff note significant concerns regarding social and communication development. Language of learning and teaching (LOLT) is English. Psychosocial Context: Parents demonstrate strong parenting capacity and are actively seeking support. Stable housing and food security. No current involvement with social workers, SAPS, or child protection services. Family dynamics appear supportive, though parents express stress regarding patient's developmental challenges. Behavioural Observations: During assessment, patient initially avoided eye contact and explored the room by running along walls. Engaged in repetitive play with toy cars (spinning wheels) for extended periods. Non-verbal communication was limited; used pointing to request items. Verbal communication consisted of single words and some echolalic phrases. Showed strong sensory interest in textured toys. Emotional regulation was poor when transitions were attempted, resulting in crying and body stiffening. Attention was fleeting unless highly preferred items were involved. Engagement with assessor was minimal, preferring to play independently. Assessment Results: * Griffiths Mental Development Scales (GMDS-III): Global Quotient of 65 (Severely Delayed). Specific subscales showed marked delays in Personal-Social (SD = -3.5), Language (SD = -4.0), and Eye-Hand Coordination (SD = -2.8). Locomotor (SD = -2.0) and Performance (SD = -2.5) were also delayed but less severely. * Social Communication Questionnaire (SCQ): Score of 28 (above clinical cut-off for ASD). * Vineland Adaptive Behavior Scales (VABS-3): Adaptive Behaviour Composite score of 68 (significantly below average), with Communication and Socialisation domains most impaired. Multidisciplinary Contributions: * Speech-Language Therapist: Initial assessment highlighted significant pragmatic language difficulties and a need for augmentative and alternative communication (AAC) strategies. Recommended intensive speech therapy. * Occupational Therapist: Identified sensory processing difficulties (over-responsivity to auditory stimuli, under-responsivity to proprioceptive input) and fine motor delays. Recommended sensory integration therapy and fine motor skill development activities. Diagnostic Formulation: Patient presents with persistent deficits in social communication and social interaction across multiple contexts, as well as restricted, repetitive patterns of behaviour, interests, or activities. These symptoms began in early childhood and significantly impair functioning. Assessment findings from GMDS-III, SCQ, and VABS-3, coupled with clinical observations and caregiver report, are highly consistent with diagnostic criteria for Autism Spectrum Disorder. Differential considerations include severe developmental language disorder, but the pervasive social interaction deficits and presence of restricted/repetitive behaviours make ASD the most fitting diagnosis. Based on DSM-5 criteria, the diagnosis is Autism Spectrum Disorder, Level 3 (Requiring very substantial support). Diagnosis: Autism Spectrum Disorder (ASD), Level 3 (Requiring very substantial support) - F84.0 (ICD-10-CM) Functional Profile: Strengths: Strong visual memory, good rote memory for songs and familiar phrases. Shows affection towards primary caregivers. Support Needs: Requires significant support for verbal and non-verbal communication, social interaction, and managing transitions/changes in routine. Difficulties with independent daily functioning (dressing, feeding, toileting). Participation in group activities at crèche is severely limited. Recommendations: 1. Intensive Speech-Language Therapy: Focus on functional communication, reciprocal interaction, and AAC strategies (e.g., PECS). 2. Occupational Therapy: Continue with sensory integration therapy and fine motor skill development. 3. Referral to Early Intervention Programme: For comprehensive, multidisciplinary support tailored for ASD. 4. Parent Training Programme: To equip parents with strategies for managing challenging behaviours and promoting communication. 5. DBE Referral: For assessment of special educational needs and consideration for placement in an inclusive or special needs school setting when appropriate. 6. Follow-up with Paediatrician: In 3 months to monitor progress and review therapeutic interventions. Referrals to tertiary clinics for genetic counselling may be considered if indicated by further investigations. Ongoing liaison with crèche staff to implement strategies in the educational setting.