Language in young children with neurofibromatosis-1: Relations to functional communication, attention, and social functioning

Brei, Natalie; Klein-Tasman, Bonnie; Schwarz, G. Nathanael; Casnar, Christina L.

doi:10.1016/j.ridd.2014.06.016

Cited by 21 publications

(20 citation statements)

References 34 publications

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“…Their findings supported previous work by Alivuotila et al ( 50 ) who showed that difficulties experienced by children with NF1 in producing speech sounds do not seem to be language dependent, but may be a particular trait of this condition. Brei et al ( 51 ) reported that young children of 4–6 years had an increased risk of language difficulties. Although deficits in the auditory temporal processing have demonstrated an association with cognitive impairment and language deficits ( 52 ), these aspects have not been well studied in recent years.…”

Section: Discussionmentioning

confidence: 99%

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1

et al. 2017

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AimThe last systematic review of research on the behavior of children with neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have been published. Therefore, the study aim was to synthesize recent relevant work related to this issue.MethodWe conducted a systematic review of the literature. Relevant articles were identified using the electronic databases PubMed, PsycINFO, and Scopus and a manual search of references lists. Thirty of 156 articles identified met the inclusion criteria. A quality evaluation of the articles was performed and the information was synthesized using a narrative approach.ResultsCompared with controls, children and adolescents with NF1 present significant alterations in language, reading, visuospatial skills, motor function, executive function, attention, behavior, emotion, and social skills. The prevalence of attention-deficit/hyperactivity disorder (ADHD) is important and can affect cognition and executive function variables. A high prevalence of autistic traits and autistic spectrum disorder were reported. The benefits of using statins to treat cognitive deficits are unclear. However, children with NF1 and ADHD seem to benefit from methylphenidate treatment. The presence of hyperintensities in brain magnetic resonance imaging data seem to be related to poor cognitive performance. Analysis of these lesions could help to predict cognitive alterations in children with NF1.InterpretationThere has been important progress to evaluate cognitive characteristics of children with NF1 and to determine the physiological mechanisms of the concomitant disorders. However, discrepancies in relation to intelligence, learning disabilities, attention deficits, and treatment remain. Further investigations on this topic are recommended.

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Section: Discussionmentioning

confidence: 99%

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1

et al. 2017

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“…A study of 40 children with NF1 aged 3–6 years found weaker cognitive abilities on all subscales of the Differential Ability Scales compared to controls matched for age and socioeconomic status [ 47 ]. At least a third of preschool children with NF1 have difficulties with expressive and receptive language skills as well as phonological awareness [ 48 ]. A cross-sectional study of 39 toddlers with NF1 aged 21–30 months assessed using Bayley Scales of Infant Development, Wechsler preschool scale of intelligence, and parental measures of behaviour found poorer cognitive, motor, and language development in the NF1 group compared to age-matched controls [ 49 ].…”

Section: Discussionmentioning

confidence: 99%

Early development of infants with neurofibromatosis type 1: a case series

et al. 2017

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BackgroundProspective 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.MethodsWe 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.ResultsInfants 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.ConclusionsTen-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.Electronic supplementary materialThe online version of this article (10.1186/s13229-017-0178-0) contains supplementary material, which is available to authorized users.

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“…Affected children may exhibit high rates of social impairment that impact social interaction and skills [Brei et al, 2014;Allen et al, 2016]. These might result, in part, from a generalized deficit in the "theory of mind" (crucial for language acquisition), which seems to be independent of their general cognitive abilities [Payne et al, 2016].…”

Section: Sz and (The Evolution Of) Human Languagementioning

confidence: 99%

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

et al. 2017

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Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. It has been hypothesized that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history, and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this hypothesis, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behavior and cognition, and to favor the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioral levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% of SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the domestication syndrome and primarily involving the neural crest.

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Language in young children with neurofibromatosis-1: Relations to functional communication, attention, and social functioning

Cited by 21 publications

References 34 publications

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1

Early development of infants with neurofibromatosis type 1: a case series

Schizophrenia and Human Self-Domestication: An Evolutionary Linguistics Approach

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