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.
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.
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.
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.

OBJECTIVE: Low birth weight (LBW; below 2500 grams) is a general risk factor for a variety of neurodevelopmental difficulties. However, these children may remain more vulnerable to neurologic and environmental insults occurring years later. This prospective case series reports on children who sustained a mild, moderate, or severe traumatic brain injury (TBI) in middle childhood but who had also been born with birth weights below 2500 grams.
METHODS: PARTICIPANTS were 14 children with mild, moderate, or severe traumatic brain injury (TBI), 5 of whom had birth weights under 2500 grams (LBW) and 9 children with normal birth weight (NBW). All participants were drawn from a larger study on the long-term cognitive and behavioral impact of pediatric TBI and were matched on age, estimated socioeconomic status (SES), and severity of TBI (with NBW children actually having a slightly worse overall injury severity).
RESULTS: At baseline, both groups exhibited similar scores on WJ-R Letter Word Identification and Calculations, Tower of London number solved, and CVLT-C total correct. Baseline group differences were observed on the CELF-III Formulated Sentences (NBW > LBW) and on the VABS Adaptive Behavior Composite and Socialization subdomain (LBW > NBW). Over 2 years, relative to the NBW group, the LBW group evidenced declines on both WJ-R subtests, CVLT-C total correct, CELF-III Formulated Sentences, and VABS Adaptive Behavior Composite and Socialization.
CONCLUSIONS: Although preliminary in nature due to small sample size, findings suggest a history of LBW influences the recovery trajectory following childhood TBI. Academic and adaptive functioning and verbal memory appeared particularly affected.