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Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
Hannah Slevin1, Fiona Kehinde1, Jannath Begum-Ali2
1Division of Psychology and Mental Health, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Insights
Children with Neurofibromatosis 1 (NF1) show developmental delays by 24 months, with lower cognitive and adaptive skills and higher autism and ADHD traits compared to typically developing peers. Early monitoring and intervention are crucial for NF1 affected infants.
Area of Science:
- Neuroscience
- Developmental Psychology
- Genetics
Background:
- Children with Neurofibromatosis 1 (NF1) exhibit known cognitive, behavioral, and social differences.
- The precise age and sequence of these developmental differences emerging in NF1 are not fully understood.
Purpose of the Study:
- To prospectively examine cognitive, behavioral, ADHD trait, and autism symptom development in infants and preschoolers with NF1.
- To compare developmental trajectories in NF1 children against typically developing (TD) controls.
Main Methods:
- A prospective cohort study involving 35 children with NF1 and 29 TD children.
- Standardized cognitive (MSEL) and adaptive behavior (VABS) tests administered from 5 to 36 months.
- ADHD and autism traits assessed at 24 and 36 months using various standardized measures.
Main Results:
- Significant differences in cognitive and behavioral developmental trajectories between NF1 and TD groups.
- NF1 participants showed significantly lower cognitive and adaptive skills at 24 months.
- NF1 cohort exhibited higher mean autism and ADHD traits at 24 months, with 14% meeting autism criteria by 36 months.
Conclusions:
- By 24 months, children with NF1 demonstrate impaired cognitive and adaptive skills and elevated autism and ADHD traits compared to TD children.
- These findings highlight the need for early developmental monitoring and timely intervention referrals for infants with NF1.
Background:
Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions.
Methods:
Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months.
Results:
The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months.
Limitations:
The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months.
Conclusions:
By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions.
Trial Registration:
Not applicable.
