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Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
ConclusionsIndividuals with DS were noted to have hypovitaminosis D in comparison to individuals with ASD and NT controls. Associations between vitamin D deficiency and high BMI, personal autoimmunity, and familial autoimmunity were present in individuals with DS. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 25, 2023 Category: Neurology Source Type: research

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
ConclusionThe top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - October 13, 2023 Category: Neurology Source Type: research

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
ConclusionsThe consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a “TAND toolkit” of “what to seek” and “what to do” when difficulties are identified in TAND clusters. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 14, 2023 Category: Neurology Source Type: research

Correction: Pleiotropy between language impairment and broader behavioral disorders —an investigation of both common and rare genetic variants
(Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 6, 2023 Category: Neurology Source Type: research

Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort
ConclusionsTheAnnoPred ADHD PGS was a more developmentally specific predictor of adolescent IA symptoms compared to the traditional ADHD PGS. However, brain volumes did not mediate the effects of either a traditional orAnnoPred ADHD PGS on ADHD symptoms, suggesting that we may still be underpowered in clarifying brain-based biomarkers for ADHD using genetic measures. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 31, 2023 Category: Neurology Source Type: research

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome
ConclusionsThis work offers insight into neurobiological and genetic mechanisms responsible for the WS phenotype and also more generally provides a striking example of the mechanisms by which genetic variation, acting by means of molecular effects on a neural intermediary, can influence human cognition and, in some cases, lead to neurocognitive disorders. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 26, 2023 Category: Neurology Source Type: research

Why are only some children with autism spectrum disorder misclassified by the social communication questionnaire? An empirical investigation of individual differences in sensitivity and specificity in a clinic-referred sample
ConclusionsThe findings suggest that non-autistic developmental and behavioral individual difference characteristics may explain high rates of misclassification using the SCQ. Clinicians and researchers could consider using the SCQ in combination with other tools for young children with internalizing and externalizing symptoms and other more complex clinical presentations. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 22, 2023 Category: Neurology Source Type: research

Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis
ConclusionsDespite differences in certain aspects,  this finding suggests that ART is unlikely to cause negative impacts on children’s neurodevelopment. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 22, 2023 Category: Neurology Source Type: research

Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory
ConclusionsOverall, results suggest that NF1 is characterised by aberrant resting state oscillatory activity that may contribute towards the cognitive impairments experienced in this population.Trial registrationClinicalTrials.gov, NCT03310996 (first posted: October 16, 2017). (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 22, 2023 Category: Neurology Source Type: research

Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder
ConclusionsFindings suggest that WM diffusivity in the SLF increases along a continuum across DD  + ADHD, DD, and TD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 8, 2023 Category: Neurology Source Type: research

Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study
ConclusionsPeriventricular leukomalacia mainly occurred in preterm infants while subcortical cystic leukomalacia was commonly seen in term infants. Although the long-term neurodevelopmental outcomes of leukomalacia were both poor, preterm infants were more prone to CP, while term infants were more prone to ID, EP, and the combination of CP with ID and EP. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - August 7, 2023 Category: Neurology Source Type: research

Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome
ConclusionsThese data indicate cortical region-specific delays in temporal processing development inFmr1 KO mice. Developmental delays in the ability of frontal cortex to follow rapid changes in sounds may shape language delays in FXS, and more broadly in ASD. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - July 29, 2023 Category: Neurology Source Type: research

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
ConclusionsAlthough feasible clinical outcome assessments and digital health technologies are reported herein, further improved assessments of meaningful AS change are needed. Despite the COVID-19 pandemic, remote assessments facilitated high adherence levels and the results suggested that at-home PSG/EEG might be a feasible alternative to the in-clinic EEG assessments. Taken altogether, the combination of in-clinic/at-home clinical outcome assessments, digital health technologies, and PSG/EEG may improve protocol adherence, reduce patient burden, and optimize study outcomes in AS and other rare disease populations. (Sourc...
Source: Journal of Neurodevelopmental Disorders - July 26, 2023 Category: Neurology Source Type: research

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