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Early development of infants with neurofibromatosis type 1: a case series
Anna May Kolesnik1, Emily Jane Harrison Jones1, Shruti Garg2
1Centre for Brain and Cognitive Development and Department of Psychology, Birkbeck, University of London, Malet Street, London, WC1E 7HX UK.
Insights
Infants with neurofibromatosis type 1 (NF1) show early motor and communication delays, similar to those seen in infants later diagnosed with autism spectrum disorder (ASD). These findings highlight motor function as crucial for understanding ASD development.
Area of Science:
- Developmental neuroscience
- Genetics
- Autism spectrum disorder research
Background:
- Autism spectrum disorder (ASD) studies in at-risk infants offer insights but have heterogeneous samples.
- Studying infants with monogenic syndromes, like neurofibromatosis type 1 (NF1), provides a clearer etiological pathway to understand ASD development.
- NF1 is a monogenic disorder with a high prevalence of ASD or ASD symptomatology.
Observation:
- A prospective study examined ten 10-month-old infants with NF1.
- Data were compared to a large cohort of infants at familial risk for ASD (categorized by 3-year outcome: ASD, atypical development, typical development) and low-risk controls.
- Assessments at 10 months included cognitive, adaptive, sensory, social, and temperamental domains via parent report and observation.
Findings:
- Infants with NF1 exhibited significant motor impairments compared to low-risk controls.
- This motor impairment pattern mirrored that of infants with familial risk for ASD (HR-ASD) who later developed ASD.
- Both NF1 infants and the HR-ASD group demonstrated communication delays relative to low-risk controls.
Implications:
- Early developmental difficulties in motor and communication domains are evident in 10-month-old infants with NF1.
- Social skills were not notably impaired at this age in NF1 infants, similar to HR-ASD infants.
- Findings suggest motor functioning is a key area for informing animal models of ASD and has clinical implications for early surveillance and intervention in NF1.
Background:
Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD.
Methods:
We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament.
Results:
Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants.
Conclusions:
Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.
