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Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I
ConclusionsThese findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 28, 2021 Category: Neurology Source Type: research

Self-reported psychological disorders among the mothers of children with autism spectrum disorder, type 1 diabetes mellitus, and typically developed children
ConclusionMothers of children with ASD should be assessed for the presence of depression following diagnosis. Mothers of children with type 1 diabetes require careful monitoring for the effects of anxiety and stress on their mental health and therefore their ability to cope with diabetes management plans.Trial registrationNot applicable. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 22, 2021 Category: Neurology Source Type: research

A multi-study examination of the role of repeated spaced retrieval in the word learning of children with developmental language disorder
ConclusionsOverall, the findings support the continued refinement of these types of repeated spaced retrieval procedures, as they may have potential to serve as effective approaches to intervention. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 15, 2021 Category: Neurology Source Type: research

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study
ConclusionsGiven the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. (Source: Journal o...
Source: Journal of Neurodevelopmental Disorders - April 28, 2021 Category: Neurology Source Type: research

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
AbstractFOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role ofFOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of...
Source: Journal of Neurodevelopmental Disorders - April 23, 2021 Category: Neurology Source Type: research

White matter microstructure associations with episodic memory in adults with Down syndrome: a tract-based spatial statistics study
ConclusionThese findings suggest that white matter degeneration may be implicated in early episodic memory declines prior to the onset of dementia in adults with Down syndrome. Further, our findings suggest a coupling of episodic memory and white matter microstructure independent of chronological age. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 20, 2021 Category: Neurology Source Type: research

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis
ConclusionsThese findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 19, 2021 Category: Neurology Source Type: research

mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus
ConclusionsThese findings may contribute to an explanation why ASD symptoms in individuals with TSC, where comorbid early-onset epilepsy is common, were not reliably ameliorated by mTOR inhibitors  in clinical studies. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 17, 2021 Category: Neurology Source Type: research

Social cognition in 22q11.2 deletion syndrome and idiopathic developmental neuropsychiatric disorders
ConclusionsOur findings indicate social cognitive deficits are more prominent in 22q11DS than idiopathic neuropsychiatric conditions across the age range, even after adjusting for global intellectual function. These results contribute to our understanding of the intellectual and social vulnerabilities of 22q11DS in comparison to idiopathic neuropsychiatric disorders. Our findings of robust associations between intellectual ability and social cognition emphasizes the importance of accounting for neurocognitive deficits in social skills interventions and tailoring these existing treatment models for 22q11DS and other populat...
Source: Journal of Neurodevelopmental Disorders - April 17, 2021 Category: Neurology Source Type: research

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling
ConclusionThe ELS procedures considered were feasible and yielded variables with adequate psychometric properties for most individuals with DS between 6 and 23 years old. That said, studies of outcome measures appropriate for individuals with DS with more limited spoken language skills are needed. Context differences were observed in ELS variables suggest that comprehensive evaluation of expressive language is likely best obtained when utilizing both contexts. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 8, 2021 Category: Neurology Source Type: research

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome
ConclusionsWe present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders.Trial registrationsClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 22, 2021 Category: Neurology Source Type: research

Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome
ConclusionsFindings suggest that infants with FXS show both behavioral and physiological markers of social anxiety at 12 months old using a biobehavioral approach with multiple sources of input. Results highlight the importance of a multi-method approach to understanding the complex early emergent characteristics of anxiety in infants with FXS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 20, 2021 Category: Neurology Source Type: research

Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders
ConclusionsThese findings suggest that the subcomponents of gait affected in NDDs show overlap between disorders as well as some disorder-specific features, which may change over the course of development. Our incorporation of spatial, temporal, and postural gait measures also provides a template for gait characterization in other NDD models and a platform to examining circuits or longitudinal therapeutics. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 20, 2021 Category: Neurology Source Type: research

Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1
ConclusionsAlthough speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 2, 2021 Category: Neurology Source Type: research

MEG-PLAN: a clinical and technical protocol for obtaining magnetoencephalography data in minimally verbal or nonverbal children who have autism spectrum disorder
ConclusionsChildren who have ASD who are minimally verbal/nonverbal, and often have co-occurring cognitive impairments, can be effectively and comfortably supported to complete an electrophysiological exam that yields valid and reproducible results. MEG-PLAN is a protocol that can be disseminated and implemented across research teams and adapted across technologies and neurodevelopmental disorders to collect electrophysiology and neuroimaging data in previously understudied groups of individuals. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 23, 2021 Category: Neurology Source Type: research