Neurodevelopmental Disorders

2020 ◽  
pp. 387-401
Author(s):  
Althea Robinson Shelton ◽  
Jessica Duis ◽  
Beth Malow
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Diagnostic Tests ◽  
Sleep Disturbances ◽  
Sleep Problems ◽  
Fragile X ◽  
Clinical History ◽  
Autism Spectrum ◽  
Prader Willi Syndrome ◽  
Typically Developing

Compared to typically developing children, sleep disturbances are exceedingly prevalent in children with neurodevelopmental disorders. The diagnostic criteria for many neurodevelopmental disorders includes sleep problems. Sleep disturbance in this population is often multifactorial and caused by the interplay of genetic, neurobiological and environmental overlap. These disturbances often present either as insomnia or hypersomnia. Different sleep disorders present with these complaints and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. The chapter covers autism spectrum disorder, Down syndrome, Prader–Willi syndrome, Angelman syndrome, Rett syndrome, Fragile X syndrome, Williams syndrome, and Smith–Magenis syndrome.

scholarly journals Salivary Cytokine Profile as a Possible Predictor of Autism Spectrum Disorder

2020 ◽  
Vol 9 (10) ◽  
pp. 3101 ◽  
Author(s):  
Joanna Samborska-Mazur ◽  
Anna Kostiukow ◽  
Izabela Miechowicz ◽  
Dorota Sikorska ◽  
Rafał Rutkowski ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typically Developing ◽  
Monocyte Chemoattractant Protein 1 ◽  
Children With Asd ◽  
Cytokine Levels ◽  
Factor Α ◽  
Gait Disturbances

Autism spectrum disorder (ASD) is characterized by neurodevelopmental disorders and alterations in immune function and cytokine levels. The aim of this study is to determine the salivary levels of interleukin-1β (IL-1β), interleukin-6 (IL-6), interleukin-8 (IL-8), tumor necrosis factor α (TNFα), monocyte chemoattractant protein-1 (MCP-1), Regulated on Activation, Normal T-cell Expressed and Secreted (RANTES), and Eotaxin in children with ASD and in healthy controlsto assess their predictive potential. We explored correlations between the cytokine levels and the neurodevelopmental disorders related to ASD. The study comprised 19 children with ASD and 19 typically developing (TD) ones. We analyzed salivary levels of IL-1β, IL-6, IL-8, TNFα, MCP-1, RANTES, and eotaxin on Luminex with custom-designed 7-plex kits. The level of RANTES in ASD children was significantly lower than those of TD. In TDs, the salivary levels of IL-1β, MCP-1, and TNFα correlated positively with age. In ASD, the cytokine levels did not correlate with age. There were statistically significant differences between the RANTES level and aggression and gait disturbances, between IL-8 level and fixations/stimulations, and between IL-1β level and no active speech. The levels of the cytokine detected can manifest both systemic and local changes related to ASD. The cytokine pattern cannot be used as a sole ASD predictor, but the salivary levels may be helpful in categorizing the ASD subtype.

scholarly journals Perseveration in the Connected Speech of Boys with Fragile X Syndrome with and Without Autism Spectrum Disorder

2012 ◽  
Vol 117 (5) ◽  
pp. 384-399 ◽  
Author(s):  
Gary E. Martin ◽  
Joanne E. Roberts ◽  
Nancy Helm-Estabrooks ◽  
John Sideris ◽  
Jacqueline Vanderbilt ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Interaction ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Typically Developing ◽  
Connected Speech ◽  
Language Sampling ◽  
Language Characteristic

Abstract Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n  =  29) and without (n  =  30) autism spectrum disorder, boys with Down syndrome (n  =  27), and typically developing boys (n  =  25) at similar nonverbal mental ages. During a social interaction, boys with both Fragile X syndrome and autism spectrum disorder produced significantly more topic perseveration than all other groups. In social interaction as compared to narration, boys with Fragile X syndrome (regardless of autism status) produced significantly more topic perseveration. These findings suggest that autism status, as well as language sampling context, affect perseveration in boys with Fragile X syndrome.

scholarly journals Sleep Disturbances in Children With Autism Spectrum Disorder at a Malaysian Tertiary Hospital

2021 ◽  
Vol 8 ◽  
Author(s):  
Ho Wai Koo ◽  
Juriza Ismail ◽  
Wai Wai Yang ◽  
Syed Zulkifli Syed Zakaria
Keyword(s):  
Autism Spectrum Disorder ◽  
Sleep Disturbances ◽  
Sleep Problems ◽  
Sleep Latency ◽  
Children With Autism ◽  
Female Gender ◽  
Autism Spectrum ◽  
Age Group ◽  
Children With Asd ◽  
Sleep Length

Introduction: Children with autism spectrum disorder (ASD) have a variety of co-morbid medical problems, including sleep disturbances. Prevalence of sleep disorders has been reported to be higher in this group as compared to the general population. Identifying sleep problems in children with ASD may help increase awareness and improve the overall quality of care for them. The aim of this study was to determine the prevalence of sleep problems and associated factors in a group of Malaysian children aged 6–16 years, with ASD.Method: This is a cross-sectional study at the Child Development Centre of UKM Medical Centre (UKM MC) on ASD children aged 6–16 years. Demographic data was obtained and the Sleep Disturbances Scale for Children (SDSC) questionnaire was completed by the main caregiver. Logistic regression analysis was used to determine factors related to higher total SDSC scores.Results: A total of 128 patients were recruited (111 boys) with a median age of 8 years 3 months (IQR: 2 years 10 months). Forty-seven (36.7%) of them obtained total SDSC scores in the pathological range with 19 (14.8%) scoring high for overall disturbances and 28 (21.9%) for at least one subtype of sleep disorders: 25 (19.5%) DIMS, 18 (14.1%) SBD, 10 (7.8%) DOES, 5 (3.9%) DOA, 6 (4.7%) SWTD, and 3 (2.3%) SHY. More than half of the children (57.8%) were reported to have sufficient sleep duration of 8–11 h, but longer sleep latency of at least 15 min (82.8%). Half of the ASD children also had co-morbidities in which one-third (34.4%) had attention-deficit hyperactivity disorder (ADHD). Using logistic regression analysis, four factors were significantly associated with higher total SDSC scores; female gender (p = 0.016), older age group (11–16 years old) (p = 0.039), shorter sleep length (p = 0.043), and longer sleep latency (p < 0.001).Conclusion: The prevalence of sleep disturbances is high among Malaysian children with ASD, especially DIMS. Female gender, older age group, shorter sleep length, and longer sleep latency were found to be associated with the sleep disturbances. Evaluation of sleep problems should form part of the comprehensive care of children with ASD.

scholarly journals Modulation of Serotonin Receptors in Neurodevelopmental Disorders: Focus on 5-HT7 Receptor

Molecules ◽  
2021 ◽  
Vol 26 (11) ◽  
pp. 3348
Author(s):  
Jieon Lee ◽  
Diana Avramets ◽  
Byungsun Jeon ◽  
Hyunah Choo
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorders ◽  
Serotonin Receptors ◽  
Serotonin Receptor ◽  
Fragile X ◽  
Autism Spectrum ◽  
Neuronal Morphology ◽  
Point Of View ◽  
Receptor Subtype ◽  
Potential Therapeutic Target

Since neurodevelopmental disorders (NDDs) influence more than 3% of children worldwide, there has been intense investigation to understand the etiology of disorders and develop treatments. Although there are drugs such as aripiprazole, risperidone, and lurasidone, these medications are not cures for the disorders and can only help people feel better or alleviate their symptoms. Thus, it is required to discover therapeutic targets in order to find the ultimate treatments of neurodevelopmental disorders. It is suggested that abnormal neuronal morphology in the neurodevelopment process is a main cause of NDDs, in which the serotonergic system is emerging as playing a crucial role. From this point of view, we noticed the correlation between serotonin receptor subtype 7 (5-HT7R) and NDDs including autism spectrum disorder (ASD), fragile X syndrome (FXS), and Rett syndrome (RTT). 5-HT7R modulators improved altered behaviors in animal models and also affected neuronal morphology via the 5-HT7R/G12 signaling pathway. Through the investigation of recent studies, it is suggested that 5-HT7R could be a potential therapeutic target for the treatment of NDDs.

scholarly journals Attention Bias and Prodromal Anxiety Symptoms in Toddlers With Fragile X Syndrome and Down Syndrome

2021 ◽  
Vol 126 (2) ◽  
pp. 167-181
Author(s):  
Kayla Smith ◽  
Abigail L. Hogan ◽  
Elizabeth Will ◽  
Jane E. Roberts
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Symptom Severity ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Autism Spectrum ◽  
Behavioral Risk ◽  
Typically Developing ◽  
Attentional Avoidance ◽  
Underlying Mechanisms

Abstract Early identification of behavioral risk markers for anxiety is essential to optimize long-term outcomes in children with neurodevelopmental disorders. This study analyzed attentional avoidance and its relation to anxiety and autism spectrum disorder (ASD) symptomatology during social and nonsocial fear conditions in toddlers with fragile X syndrome (FXS) and Down syndrome (DS). Toddlers with FXS and DS exhibited increased nonsocial attentional avoidance relative to typically developing (TD) toddlers. Attentional avoidance was not related to anxiety symptom severity in any group; however, higher ASD symptom severity was related to more social attentional avoidance in the FXS and TD groups. Findings suggest that there may be different underlying mechanisms driving attentional avoidance across neurodevelopmental disorders.

scholarly journals Effects of Supplementation With Antioxidant Agents on Sleep in Autism Spectrum Disorder: A Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Elena Zambrelli ◽  
Althea Lividini ◽  
Sofia Spadavecchia ◽  
Katherine Turner ◽  
Maria Paola Canevini
Keyword(s):  
Oxidative Stress ◽  
Autism Spectrum Disorder ◽  
Sleep Disturbances ◽  
Sleep Problems ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Antioxidant Agents ◽  
High Prevalence ◽  
Severity Of The Disease ◽  
The Impact

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition, whose etiology remains poorly understood in most cases. Several genetic, epigenetic and environmental factors have been implicated in ASD pathogenesis and numerous studies have provided evidences for increased levels of oxidative stress and reduced antioxidant capacity in patients with ASD. Recent clinical trials explored supplementation with antioxidant agents as a potential therapeutic strategy for ASD, investigating the impact of this treatment on behavioral symptoms and on most common comorbidities of the disease, including sleep disturbances. Among all medical conditions associated to ASD, sleep problems are highly prevalent and are supposed to be positively related to the severity of the disease. Moreover, studies on animal models support the hypothesis of a relationship between oxidative stress and sleep deprivation. The aim of this review is to summarize the current state of the literature on the effect of antioxidant treatment on sleep disturbances in patients with ASD. Twenty-one articles were included in final synthesis. Of them, 15 studies involved Melatonin, 1 Tryptophan and 5 focused on supplementation with other antioxidant agents (namely Coenzyme Q10, L-Carnosine, Luteolin and Quercetin). Despite the high prevalence of comorbid sleep troubles in ASD, there is a paucity of data on the efficacy of antioxidant agents in those patients. Further research is needed to better define the role of antioxidants agents as adjunctive therapy in the management sleep disorders in children and adolescents affected with ASD.

scholarly journals The mouse model of fragile X syndrome exhibits deficits in contagious itch behavior

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Rodrigo Gonzales-Rojas ◽  
Amtul-Noor Rana ◽  
Peter Mason ◽  
Christopher Renfro ◽  
Vallabhi Annaluru ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Assessment Tool ◽  
Fragile X ◽  
Autism Spectrum ◽  
Assessment Tools ◽  
Learning Ability ◽  
Typically Developing ◽  
Spectrum Disorders

Abstract Individuals with autism spectrum disorders (ASDs) imitate observed behavior less than age-matched and typically developing peers, resulting in deterred learning ability and social interaction. However, this deficit lacks preclinical assessment tools. A previous study has shown that mice exhibit contagious itch behavior while viewing a scratching demonstrator mouse, as opposed to an ambulating demonstrator mouse, but whether autism mouse models imitate observed scratching behavior remains unknown. Here, we investigated contagious itch behavior in the mouse model of fragile X syndrome (FXS), a common form of inherited intellectual disabilities with a high risk for ASDs. We found that the mouse model of FXS shows deficits in contagious itch behavior. Our findings can be used as a new preclinical assessment tool for measuring imitative deficits in the study of neurodevelopmental disorders including FXS.

A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder

2016 ◽  
Vol 121 (6) ◽  
pp. 465-486 ◽  
Author(s):  
Joanna Moss ◽  
Lisa Nelson ◽  
Laurie Powis ◽  
Jane Waite ◽  
Caroline Richards ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Neurodevelopmental Disorders ◽  
Fragile X ◽  
Selective Mutism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cornelia De Lange

Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12–18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

scholarly journals Analysis Of Occupational Therapy’s Role to Promote Healthy Sleep Participation to Support Caregivers of Children with Autism Spectrum Disorder

2021 ◽  
Author(s):  
◽  
Sophia Roman
Keyword(s):  
Autism Spectrum Disorder ◽  
Occupational Therapy ◽  
Sleep Disturbances ◽  
Sleep Problems ◽  
Occupational Therapists ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Occupational Engagement ◽  
Sleep Habits ◽  
Children With Asd

Children with autism spectrum disorder (ASD) face sleep disturbances. Healthy sleep habits are essential for children with ASD and their caregivers to properly engage in their everyday lives. Occupational therapists are trained to evaluate clients in areas that contribute to sleep dysfunction and to focus on promoting optimal sleep performance. There is limited research on caregivers’ perceptions of their child’s sleep disturbances, these disturbances’ influence on occupational engagement, and whether occupational therapists have collaborated with caregivers of children with ASD to treat this area of occupation. Collecting data from caregivers by using a questionnaire can provide occupational therapy (OT) practitioners the emphasis on healthy sleep habits to promote healthy occupational engagement for children with ASD. This project was pursued to see if all research questions relating to sleep, occupational therapy, and occupational engagement were answered. Although rest and sleep are part of the OT practice framework, there is not enough literature to describe roles and caregivers’ perceptions to determine evidence for sleep interventions in children with ASD. This study will benefit caregivers to express their perceptions on how OT manages sleep difficulties to increase their children’s occupational engagement. The benefit of having more sleep resources available for these families can also assist caregiver stresses. The questionnaire results suggested that there is a relationship between age of child and sleep disturbance, there is a relationship between a caregiver expressing concerns about their child’s sleep problems with their occupational therapist and receiving services to address sleep during the OT intervention, there is a relationship between a caregiver expressing concerns about their child’s sleep problems with their occupational therapist and receiving services to address sleep during the OT evaluation, and there is a relationship between sleep disturbances and occupational engagement. The findings from this quantitative study support an increased role for OT practitioners to address sleep in the initial evaluation and treatment sessions.

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