Developmental trajectories in infants and pre-school children with Neurofibromatosis 1.
Kids with NF1 already show cognitive, adaptive, and autism/ADHD delays by 24 months—screen early and refer fast.
01Research in Context
What this study did
Slevin et al. (2024) followed babies and preschoolers with Neurofibromatosis Type 1 (NF1). They tracked thinking, daily-living, and social skills every few months.
The team compared the NF1 group to same-age kids without the condition. They used parent forms and play tests to spot delays and autism or ADHD traits.
What they found
By 24 months the NF1 children already scored lower on IQ and daily-living scales. They also showed more autism and ADHD behaviors than their peers.
The gap stayed wide through preschool. Early signs were clear enough to justify therapy referrals well before kindergarten.
How this fits with other research
Paul et al. (2014) saw the same pattern in toddlers with autism: Vineland scores lagged behind matched delay peers. Both studies say screen adaptive skills before age 2.
Narzisi et al. (2013) showed the CBCL 1½-5 parent form can flag autism risk at 18-36 months. Slevin’s work adds NF1 to the list of conditions that benefit from this quick parent screen.
McDonald (2012) found one in five cognitively able autistic kids moved off the spectrum after three years of early help. This hopeful note reminds us that early delays in NF1 can also shift with timely intervention.
Why it matters
If you serve toddlers with NF1, start formal screening at or before their second birthday. Use short parent tools like the CBCL Withdrawn/PDP scales plus the Vineland Daily Living domain. Any dip scores should trigger speech, OT, and autism evaluation right away, not “wait and see.”
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02At a glance
03Original abstract
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. 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. 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. 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. 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. Not applicable. The online version contains supplementary material available at 10.1186/s13229-024-00621-5.
Molecular Autism, 2024 · doi:10.1186/s13229-024-00621-5