The latest medical research on Neurodevelopmental Disabilities

The research magnet gathers the latest research from around the web, based on your specialty area. Below you will find a sample of some of the most recent articles from reputable medical journals about neurodevelopmental disabilities gathered by our medical AI research bot.

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RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer's disease, and normative aging.

Journal of Neurodevelopmental Disorders

Regulator of calcineurin 1 (RCAN1) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer's disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is characterized in part by progressive neurodegeneration that resembles accelerated aging. Importantly, abnormal RCAN1 levels have been demonstrated to promote memory deficits and pathophysiology that appear symptomatic of DS, AD, and aging. Anomalous diurnal rest-activity patterns and circadian rhythm disruptions are also common in DS, AD, and aging and have been implicated in facilitating age-related cognitive decline and AD progression. However, no prior studies have assessed whether RCAN1 dysregulation may also promote the age-associated alteration of rest-activity profiles and circadian rhythms, which could in turn contribute to neurodegeneration in DS, AD, and aging.

The present study examined the impacts of RCAN1 deficiency and overexpression on the photic entrainment, circadian periodicity, intensity and distribution, diurnal patterning, and circadian rhythmicity of wheel running in young (3-6 months old) and aged (9-14 months old) mice of both sexes.

We found that daily RCAN1 levels in the hippocampus and suprachiasmatic nucleus (SCN) of light-entrained young mice are generally constant and that balanced RCAN1 expression is necessary for normal circadian locomotor activity rhythms. While the light-entrained diurnal period was unaltered, RCAN1-null and RCAN1-overexpressing mice displayed lengthened endogenous (free-running) circadian periods like mouse models of AD and aging. In light-entrained young mice, RCAN1 deficiency and overexpression also recapitulated the general hypoactivity, diurnal rest-wake pattern fragmentation, and attenuated amplitudes of circadian activity rhythms reported in DS, preclinical and clinical AD, healthily aging individuals, and rodent models thereof. Under constant darkness, RCAN1-null and RCAN1-overexpressing mice displayed altered locomotor behavior indicating circadian clock dysfunction. Using the Dp(16)1Yey/+ (Dp16) mouse model for DS, which expresses three copies of Rcan1, we found reduced wheel running activity and rhythmicity in both light-entrained and free-running young Dp16 mice like young RCAN1-overexpressing mice. Critically, these diurnal and circadian deficits were rescued in part or entirely by restoring Rcan1 to two copies in Dp16 mice. We also found that RCAN1 deficiency but not RCAN1 overexpression altered protein levels of the clock gene Bmal1 in the SCN.

Collectively, this study's findings suggest that both loss and aberrant gain of RCAN1 precipitate anomalous light-entrained diurnal and circadian activity patterns emblematic of DS, AD, and possibly aging.

Neurodevelopmental Therapy for Cerebral Palsy: A Meta-analysis.

Cerebral Palsy

Bobath therapy, or neurodevelopmental therapy (NDT) is widely practiced despite evidence other interventions are more effective in cerebral palsy (CP). The objective is to determine the efficacy of NDT in children and infants with CP or high risk of CP.

Cumulative Index to Nursing and Allied Health Literature, Cochrane Library, Embase, and Medline were searched through March 2021. Randomized controlled trials comparing NDT with any or no intervention were included. Meta-analysis was conducted with standardized mean differences calculated. Quality was assessed by using Cochrane Risk of Bias tool-2 and certainty by using Grading of Recommendations Assessment, Development, and Evaluation.

Of 667 records screened, 34 studies (in 35 publications, 1332 participants) met inclusion. Four meta-analyses were conducted assessing motor function. We found no effect between NDT and control (pooled effect size 0.13 [-0.20 to 0.46]), a moderate effect favoring activity-based approaches (0.76 [0.12 to 1.40]) and body function and structures (0.77 [0.19 to 1.35]) over NDT and no effect between higher- and lower-dose NDT (0.32 [-0.11 to 0.75]). A strong recommendation against the use of NDT at any dose was made. Studies were not all Consolidated Standards of Reporting Trials-compliant. NDT versus activity-based comparator had considerable heterogeneity (I2 = 80%) reflecting varied measures.

We found that activity-based and body structure and function interventions are more effective than NDT for improving motor function, NDT is no more effective than control, and higher-dose NDT is not more effective than lower-dose. Deimplementation of NDT in CP is required.

Making sense of phantom limb pain.

Neurology, Neurosurgery and Psychiatry

Phantom limb pain (PLP) impacts the majority of individuals who undergo limb amputation. The PLP experience is highly heterogenous in its quality, ...

Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.

Journal of Neurodevelopmental Disorders

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges remain in diagnosing and subtyping ASD due in part to the lack of a validated, standardized vocabulary to characterize clinical phenotypic presentation of ASD. Although the human phenotype ontology (HPO) plays an important role in delineating nuanced phenotypes for rare genetic diseases, it is inadequate to capture characteristic of behavioral and psychiatric phenotypes for individuals with ASD. There is a clear need, therefore, for a well-established phenotype terminology set that can assist in characterization of ASD phenotypes from patients' clinical narratives.

To address this challenge, we used natural language processing (NLP) techniques to identify and curate ASD phenotypic terms from high-quality unstructured clinical notes in the electronic health record (EHR) on 8499 individuals with ASD, 8177 individuals with non-ASD psychiatric disorders, and 8482 individuals without a documented psychiatric disorder. We further performed dimensional reduction clustering analysis to subgroup individuals with ASD, using nonnegative matrix factorization method.

Through a note-processing pipeline that includes several steps of state-of-the-art NLP approaches, we identified 3336 ASD terms linking to 1943 unique medical concepts, which represents among the largest ASD terminology set to date. The extracted ASD terms were further organized in a formal ontology structure similar to the HPO. Clustering analysis showed that these terms could be used in a diagnostic pipeline to differentiate individuals with ASD from individuals with other psychiatric disorders.

Our ASD phenotype ontology can assist clinicians and researchers in characterizing individuals with ASD, facilitating automated diagnosis, and subtyping individuals with ASD to facilitate personalized therapeutic decision-making.

Co-development of the ENVISAGE-Families programme for parents of children with disabilities: Reflections on a parent-researcher partnership.

Cerebral Palsy

In childhood disability research, the involvement of families is essential for optimal outcomes for all participants. ENVISAGE (ENabling VISions And Growing Expectations)-Families is a programme comprising five online workshops for parents of children with neurodevelopmental disorders. The workshops aim to introduce parents to strengths-based perspectives on health and development. The research is based on an integrated Knowledge Translation (iKT) approach, in which knowledge users are involved throughout the research process. This article is co-authored by the ENVISAGE health service researchers (N = 9) and parent partners (N = 3) to describe the process through which we co-developed and implemented the workshops.

Collaborative auto-ethnography methods, based on a combination of interviews, qualitative surveys, and discussions held to complete the Guidance for Reporting Involvement of Patients and Public-2 tool, were used to describe the co-design process, the benefits gained, and lessons learned.

Parents (n = 118) were involved in developing and implementing the ENVISAGE workshops across the different phases, as partners, collaborators, or participants. Three parents were involved as investigators throughout. We identify seven key ingredients that we believe are necessary for a successful parent-researcher working relationship: (i) consistent communication; (ii) clear roles and expectations; (iii) onboarding and feedback; (iv) flexibility; (v) understanding; (vi) self-reflection; and (vii) funding.

Patient and family engagement in research is a rapidly growing area of scholarship with new knowledge and tools added every year. As our team embarks on new collaborative studies, we incorporate this knowledge as well as the practical experience we gain from working together.

The positive short-term effect of dexamethasone on ataxia symptoms in a patient with ataxia-telangiectasia: A case report.

Cerebral Palsy

Oral dexamethasone was administered at a dose of 0.075 mg/kg/day for a boy with ataxia-telangiectasia. The SARA score was improved by 7.0 points af...

Improving typically developing children's acceptance toward children with autism via teaching with picture books.

International Journal of Epidemiology

A quasi-experimental group design with repeated measures at pretest and posttest was employed to examine the effect of teaching with picture books ...

Cognitive training in adults with intellectual disability: pilot study applying a cognitive tele-rehabilitation program.

International Journal of Epidemiology

This pilot study analyzes the effect of a cognitive training program in adults with intellectual disability (ID).

Twenty subjects (mean age 52.7 ± 9.77 years) with mild and moderate ID were divided in control and experimental group. Only the experimental group received the training program. This program was applied through the GNPT® (Guttmann, NeuroPersonalTrainer®) platform for people with ID.

The results revealed a significant improvement in the Kaufman Brief Intelligence Test-2 scores (Matrices subtest) in the experimental group [Z = 2.12; p = .03] after the intervention, indicating an enhancement in fluid ability due to effect of cognitive training program.

Findings provide evidence of the importance of applying these programs in a systematized way in adults with ID.

Family quality of life: perceptions of parents of children with developmental disabilities in Bosnia and Herzegovina.

International Journal of Epidemiology

The goal of the present study was to assess the family quality of life (FQOL) in families with children with developmental disabilities in Bosnia a...

How Filipino parents home educate their children with autism during COVID-19 period.

International Journal of Epidemiology

This short article describes how Filipino parents home educate their children with autism during the COVID-19 period. Employing a mainly qualitativ...

Influencing factors of Chinese special education teacher turnover intention: understanding the roles of subject well-being, social support, and work engagement.

International Journal of Epidemiology

 Turnover intentions are peoples' plans of turnover action, representing their expressed motivation to perform the turnover behavior, which may be ...

Immediate reinforcement increased duration of time riding the stationary bicycle in children with autism spectrum disorder: a pilot study.

International Journal of Epidemiology

The necessity of promoting physical activity in individuals with Autism Spectrum Disorder (ASD) has been emphasized for decades. One of the barrier...