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Sleep disturbances are associated with irritability in ASD children with sensory sensitivities
ConclusionWe suggest that the three symptom domains may interact and exacerbate each other such that successful intervention in one symptom domain may have positive impact on the others. Further intervention studies testing this hypothesis are highly warranted. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 21, 2023 Category: Neurology Source Type: research

Correction: Understanding the prevalence and manifestation of anxiety and other socio ‑emotional and behavioural difficulties in children with Developmental Language Disorder
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 30, 2023 Category: Neurology Source Type: research

The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records
ConclusionsOur study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 16, 2023 Category: Neurology Source Type: research

Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis
Abstract22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition.22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders. We have been particularly interested in understanding the risk for psychosis in this population: Approximately 30% of the individuals with the deletion go on to develop schizophr...
Source: Journal of Neurodevelopmental Disorders - June 16, 2023 Category: Neurology Source Type: research

Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder
ConclusionsParents of children with DLD appear to cope well with their children ’s complex SEB needs. Intervention focussing on intolerance of uncertainty may help the management of difficulties with anxiety. Behaviours such as insistence on sameness should be investigated further, as potential indicators for anxiety amongst children with DLD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - June 15, 2023 Category: Neurology Source Type: research

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery
AbstractEpigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes. These disorders almost universally have cognitive dysfunction and behavioral issues as core features. H...
Source: Journal of Neurodevelopmental Disorders - May 27, 2023 Category: Neurology Source Type: research

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
ConclusionTo our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - May 13, 2023 Category: Neurology Source Type: research

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders
ConclusionTogether, these results suggest that disruption in neuronal cell-adhesion pathways confers significant risk to NDDs and showcase that rare recurrent CNVs inCNTN4, 22q11.2, and 16p11.2 are overrepresented in NDDs that constitute patients predominantly suffering from ADHD and ASD.Trial registrationClinicalTrials.gov Identifier: NCT02286817 First Posted: 10 November 14, ClinicalTrials.gov Identifier: NCT02777931 first posted: 19 May 2016, ClinicalTrials.gov Identifier: NCT03006367 first posted: 30 December 2016, ClinicalTrials.gov Identifier: NCT02895906 first posted: 12 September 2016. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 29, 2023 Category: Neurology Source Type: research

The contribution of theta and delta to feedback processing in children with developmental language disorder
ConclusionTheta activity, which is associated with the initial processing of feedback at the level of the anterior cingulate cortex, was detected in children with developmental language disorder (DLD) but was not associated with their learning outcomes.Delta activity, which is assumed to be generated by the striatum and to be linked to elaborate processing of outcomes and adjustment of future actions, contributed to processing and learning outcomes of children with typical language development but not of children with DLD. The results provide evidence for atypical striatum-based feedback processing in children with DLD. (S...
Source: Journal of Neurodevelopmental Disorders - April 17, 2023 Category: Neurology Source Type: research

No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence
ConclusionsThese results indicate that an increased volume of extra-axial cerebrospinal fluid may be limited to autistic individuals younger than 5 years. Additionally, extra-axial cerebrospinal fluid volume does not differ between autistic, neurotypical, and other psychiatric conditions after age 4. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 1, 2023 Category: Neurology Source Type: research

Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder
ConclusionsThese results lend support to the hypothesis that atypical processing of sensory information is related to everyday adaptive behavior in autism. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - April 1, 2023 Category: Neurology Source Type: research

Comparison of evoked potentials across four related developmental encephalopathies
ConclusionsThere are consistent abnormalities in the evoked potentials in four developmental encephalopathies some of which correlate with clinical severity. While there are consistent changes amongst these four disorders, there are also condition specific findings that need to be further refined and validated. Overall, these results provide a foundation for further refinement of these measures for use in future clinical trials for these conditions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 4, 2023 Category: Neurology Source Type: research

Co-occurring conditions in children with Down syndrome and autism: a retrospective study
ConclusionsThis study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - March 2, 2023 Category: Neurology Source Type: research

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome
ConclusionsThis study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 20, 2023 Category: Neurology Source Type: research

Cortical and subcortical morphological alteration in Angelman syndrome
ConclusionsThese results revealed cortical and subcortical morphological alterations in patients with AS, including globally the decreased brain volume in the subcortical nucleus, the increased gray matter volume of precuneus, and the whole-brain increase of LGI and reduction of CTH. The abnormal brain pattern was more serious in patients with seizures, suggesting that the occurrence of seizures may be related to abnormal brain changes. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - February 14, 2023 Category: Neurology Source Type: research