-
Neuroscience and Biobehavioral Reviews Jul 2022Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification... (Meta-Analysis)
Meta-Analysis Review
Individuals with syndromic intellectual disability are at increased risk of experiencing anxiety. Comparing prevalence estimates of anxiety will allow the identification of at-risk groups and inform causal pathways of anxiety. No known study has explored estimates of anxiety symptomatology and diagnosis, including specific anxiety profiles, across groups whilst accounting for methodological quality of studies. This systematic review and meta-analysis aimed to fill this gap. Prior to review completion, methodology and analysis plans were registered and documented in a protocol (CRD42019123561). Data from 83 papers, involving a pooled sample of 13,708 across eight syndromes were synthesised using a random effects model. Anxiety prevalence ranged from 9 % (95 % CI: 4-14) in Down syndrome to 73% in Rett syndrome (95 % CI: 70-77). Anxiety prevalence across syndromic intellectual disability was higher than for intellectual disability of mixed aetiology and general population estimates. Substantial variability between syndromes identified groups at higher risk than others. The identification of high-risk groups is crucial for early intervention, allowing us to refine models of risk and identify divergent profiles.
Topics: Anxiety; Anxiety Disorders; Down Syndrome; Humans; Intellectual Disability; Prevalence
PubMed: 35661754
DOI: 10.1016/j.neubiorev.2022.104719 -
Frontiers in Neurology 2021is one of the most common epilepsy genes. About 80% of gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More... (Review)
Review
is one of the most common epilepsy genes. About 80% of gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in . Although it is known that is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of . The aim of this study is to systematically review the literature associated with and other non-DS-related disorders. We searched PubMed and SCOPUS for all the published cases related to gene mutations of until October 20, 2021. The results reported by each study were summarized narratively. The PubMed and SCOPUS search yielded 2,889 items. A total of 453 studies published between 2005 and 2020 met the final inclusion criteria. Overall, 303 studies on DS, 93 on GEFS+, three on Doose syndrome, nine on the epilepsy of infancy with migrating focal seizures (EIMFS), six on the West syndrome, two on the Lennox-Gastaut syndrome (LGS), one on the Rett syndrome, seven on the nonsyndromic epileptic encephalopathy (NEE), 19 on hemiplegia migraine, six on autism spectrum disorder (ASD), two on nonepileptic -related sudden deaths, and two on the arthrogryposis multiplex congenital were included. Aside from DS, also causes other epileptic encephalopathies, such as GEFS+, Doose syndrome, EIMFS, West syndrome, LGS, Rett syndrome, and NEE. In addition to epilepsy, hemiplegic migraine, ASD, sudden death, and arthrogryposis multiplex congenital can also be caused by mutations of .
PubMed: 35002916
DOI: 10.3389/fneur.2021.743726 -
Psychiatry and Clinical Neurosciences Dec 2021This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). (Review)
Review
AIM
This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT).
METHOD
Using PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes.
RESULTS
Following the thematic analysis, six themes emerged: (i) clinical features of abnormal movement behaviors; (ii) mutational profile and its impact on movement disorders; (iii) symptoms and stressors that impact on movement disorders; (iv) possible underlying neurobiological mechanisms; (v) quality of life and movement disorders; and (vi) treatment of movement disorders. Current guidelines for managing movement disorders in general were then reviewed to provide possible treatment recommendations for RTT.
CONCLUSION
Our study offers an enriched data set for clinical investigations and treatment of fine and gross motor issues in RTT. A detailed understanding of genotype-phenotype relationships of movement disorders allows for more robust genetic counseling for families but can also assist healthcare professionals in terms of monitoring disease progression in RTT. The synthesis also showed that environmental enrichment would be beneficial for improving some aspects of movement disorders. The cerebellum, basal ganglia, alongside dysregulation of the cortico-basal ganglia-thalamo-cortical loop, are likely anatomical targets. A review of treatments for movement disorders also helped to provide recommendations for treating and managing movement disorders in patients with RTT.
Topics: Animals; Humans; Movement Disorders; Mutation; Quality of Life; Rett Syndrome
PubMed: 34472659
DOI: 10.1111/pcn.13299 -
Frontiers in Neurology 2020To systematically identify and critically appraise studies that investigate the autonomic characteristics of Sudden Unexpected Death in Epilepsy (SUDEP) in the...
Autonomic Characteristics of Sudden Unexpected Death in Epilepsy in Children-A Systematic Review of Studies and Their Relevance to the Management of Epilepsy in Rett Syndrome.
To systematically identify and critically appraise studies that investigate the autonomic characteristics of Sudden Unexpected Death in Epilepsy (SUDEP) in the pediatric population. We also wanted to explore how this information would be relevant to the management of epilepsy in patients with Rett Syndrome. Using PRISMA guidelines, a systematic review of PubMed, Scopus, Cochrane, PsycINFO, Embase, and Web of Science databases was performed to identify eligible studies. After extracting data from the included studies, a thematic analysis was undertaken to identify emerging themes. A quality appraisal was also done to assess the quality of the included studies. The systematic search revealed 41 records, and 15 full-text articles on the autonomic characteristics of SUDEP in children were included in the final analysis. Following thematic analysis, three themes were identified (I) modulation in sympathovagal tone, (II) pre- and post-ictal autonomic changes, and (III) other markers of autonomic dysregulation in children with epilepsy. Modulation in sympathovagal tone emerged as the theme with the highest frequency followed by pre- and post-ictal autonomic changes. While the themes provide additional insight into the management of epilepsy in the Rett Syndrome population, the quality of evidence concerning the autonomic characteristics of SUDEP in the pediatric population was low and underscores the importance of much needed research in this area. The mechanism of SUDEP in the pediatric population is complex and involves an interplay between several components of the autonomic nervous system. While direct clinical inferences regarding pediatric SUDEP could not be made, the thematic analysis does suggest that in vulnerable populations such as Rett Syndrome, where there is already a pervasive autonomic dysregulation, pro-active surveillance of the autonomic profile in this patient group would be useful to better manage epilepsy and reduce the SUDEP risk.
PubMed: 33613425
DOI: 10.3389/fneur.2020.632510 -
International Journal of Environmental... Jan 2021Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of... (Review)
Review
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as hang wringing and intellectual disability/learning problems. This systematic review was carried out to identify the dental manifestation of Rett syndrome and to shed light on treatment options available for oral health problems associated with Rett syndrome. A systematic literature search was conducted on the PubMed, Scopus, Biomed, Web of Science, Embase, Google Scholars, Cochrane and CINAHL using the following entries: Rett syndrome ( = 3790), Oral health and Rett syndrome ( = 17), dental health of Rett syndrome patients ( = 13), and the MeSH terms listed below: Rett syndrome and Oral Health ( = 17), Rett syndrome and dentistry ( = 29). The final review included 22 search articles. The most common oral findings was bruxism. Masseteric hypertrophy was also reported. Anterior open bite and non-physiological tooth wear was observed. Other oral manifestations of Rett syndrome included mouth breathing, tongue thrusting, digit/thumb sucking, high arch palate. Increased awareness and dental education amongst dentists and assistants regarding the dental manifestations of Rett syndrome and similar neurodevelopmental disorders is required to improve the level of care and empathy they can provide to these differently able patients. Research on dental aspects of Rett is scarce and this remains a neglected topic.
Topics: Bruxism; Female; Hand; Humans; Rett Syndrome; Speech
PubMed: 33525609
DOI: 10.3390/ijerph18031162 -
Brain Sciences Jun 2020Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent... (Review)
Review
Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. The review was carried out in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A total of 17319 studies were found in the main scientific databases. Applying the inclusion/exclusion criteria, 22 studies were admitted to the final phase of the review. Level of evidence of the included studies was assessed using the Oxford Centre for Evidence-Based Medicine-Levels of Evidence guide. Nine approaches to physical therapy for patients with Rett syndrome were identified: applied behavior analysis, conductive education, environmental enrichment, traditional physiotherapy with or without aids, hydrotherapy, treadmill, music therapy, computerized systems, and sensory-based treatment. It has been reported that patients had clinically benefited from the analysed approaches despite the fact that they did not have strong research evidence. According to the results, a multimodal individualized physical therapy program should be regularly recommended to patients with Rett syndrome in order to preserve autonomy and to improve quality of life. However, more high-quality studies are needed to confirm these findings.
PubMed: 32630125
DOI: 10.3390/brainsci10070410 -
Journal of Psychiatry & Neuroscience :... May 2020Rett syndrome (RTT), a debilitating neuropsychiatric disorder that begins in early childhood, is characterized by impairments in the autonomic nervous system that can...
BACKGROUND
Rett syndrome (RTT), a debilitating neuropsychiatric disorder that begins in early childhood, is characterized by impairments in the autonomic nervous system that can lead to sudden unexpected death. This study explores the mechanisms of autonomic dysfunction to identify potential risk factors for sudden death in patients with RTT.
METHODS
Following the Reporting Items for Systematic Review and Meta-Analyses (PRISMA) criteria, we undertook comprehensive systematic reviews using the PubMed, Scopus, Cochrane, PsycINFO, Embase and Web of Science databases.
RESULTS
We identified and critically appraised 39 articles for autonomic dysfunction and 5 for sudden death that satisfied the eligibility criteria. Following thematic analysis, we identified 7 themes: breathing irregularities, abnormal spontaneous brainstem activations, heart rate variability metrics, QTc changes, vagal imbalance, fluctuation in peptides and serotonergic neurotransmission. We grouped these 7 themes into 3 final themes: (A) brainstem modulation of breathing, (B) electrical instability of the cardiovascular system and (C) neurochemical changes contributing to autonomic decline. We described key evidence relating to each theme and identified important areas that could improve the clinical management of patients with RTT.
LIMITATIONS
The heterogeneity of the methods used to assess autonomic function increased the difficulty of making inferences from the different studies.
CONCLUSION
This study identified the important mediators of autonomic dysfunction and sudden death in patients with RTT. We proposed brainstem mechanisms and emphasized risk factors that increase brainstem vulnerability. We discussed clinical management to reduce sudden death and future directions for this vulnerable population.
Topics: Autonomic Nervous System; Autonomic Nervous System Diseases; Brain Stem; Death, Sudden; Humans; Rett Syndrome; Risk Factors
PubMed: 31702122
DOI: 10.1503/jpn.190033 -
Frontiers in Psychology 2018Humor, both producing and appreciating, underpins positive social interactions. It acts as a facilitator of communication. There are clear links to wellbeing that go...
Humor, both producing and appreciating, underpins positive social interactions. It acts as a facilitator of communication. There are clear links to wellbeing that go along with this form of social engagement. However, humor appears to be a seldom studied, cross-disciplinary area of investigation when applied to people with an intellectual disability. This review collates the current state of knowledge regarding the role of humor behavior in the social interactions of people with intellectual disabilities and their carers. A systematic review utilizing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was completed, which aimed to explore the current state of knowledge and quality of empirical evidence relating to humor in people with intellectual disabilities. Following this, articles were grouped thematically and summarized. A comprehensive search of four electronic databases (1954-2017) and additional search strategies yielded 32 articles which met the final inclusion criteria. Humor played a significant positive and negative role in the social interactions of people with intellectual disabilities. Research had investigated humor in the classroom and humor expression in different groups including those with autism, Down syndrome, Angelman syndrome, Williams syndrome, and Rett syndrome. Few investigations directly studied humor appreciation and comprehension. Humor comprehension was reportedly supported by gestures. Some groups with intellectual disabilities found non-literal humor (e.g., sarcasm, irony) more difficult to understand, which may affect social relationships. Various types of humor were found to be appreciated. The role of humor in relationship development, social facilitation, creativity, and stigma had all received some limited attention. Humor also played a role for carer groups in coping with and enjoying the caring role. Research varied in quality with few experimental studies and mainly quasi-experimental and well-conducted, qualitative studies. This review revealed the importance of humor behavior in many aspects of the social lives of people with intellectual disabilities. Limited disparate research exists pertaining to humor in this group, suggesting the need for further robust research in this area, including more high quality primary research in the areas of humor production, appreciation, comprehension, and stigma.
PubMed: 30298034
DOI: 10.3389/fpsyg.2018.01745 -
Journal of Autism and Developmental... Jan 2019Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A...
Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail.
Topics: Angelman Syndrome; Autistic Disorder; Comorbidity; Humans; Movement Disorders; Prevalence; Rett Syndrome
PubMed: 30014250
DOI: 10.1007/s10803-018-3658-y -
Frontiers in Neuroscience 2018optical imaging is a powerful tool for revealing brain structure and function at both the circuit and cellular levels. Here, we provide a systematic review of findings... (Review)
Review
optical imaging is a powerful tool for revealing brain structure and function at both the circuit and cellular levels. Here, we provide a systematic review of findings obtained from imaging studies of mouse models of neurodevelopmental disorders, including the monogenic disorders fragile X syndrome, Rett syndrome, and Angelman syndrome, which are caused by genetic abnormalities of , and , as well as disorders caused by copy number variations (15q11-13 duplication and 22q11.2 deletion) and BTBR mice as an inbred strain model of autism spectrum disorder (ASD). Most studies visualize the structural and functional responsiveness of cerebral cortical neurons to sensory stimuli and the developmental and experience-dependent changes in these responses as a model of brain functions affected by these disorders. The optical imaging techniques include two-photon microscopy of fluorescently labeled dendritic spines or neurons loaded with fluorescent calcium indicators and macroscopic imaging of cortical activity using calcium indicators, voltage-sensitive dyes or intrinsic optical signals. Studies have revealed alterations in the density, stability, and turnover of dendritic spines, aberrant cortical sensory responses, impaired inhibitory function, and concomitant failure of circuit maturation as common causes for neurological deficits. Mechanistic hypotheses derived from imaging also provide new directions for therapeutic interventions. For instance, it was recently demonstrated that early postnatal administration of a selective serotonin reuptake inhibitor (SSRI) restores impaired cortical inhibitory function and ameliorates the aberrant social behaviors in a mouse model of ASD. We discuss the potential use of SSRIs for treating ASDs in light of these findings.
PubMed: 29970983
DOI: 10.3389/fnins.2018.00412