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American Journal of Medical Genetics.... Jul 2021Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. It has been suggested that hyperprolinemia is associated with... (Review)
Review
Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. It has been suggested that hyperprolinemia is associated with increased risk of developmental and mental disorders but detailed information on the psychiatric phenotype in hyperprolinemic patients is limited. Following PRISMA guidelines, we carried out a systematic review to clarify psychiatric phenotypes in patients with hyperprolinemia. We screened 1753 studies and included 35 for analysis, including 20 case reports and 15 case-control and cohort studies. From these studies, a common psychiatric phenotype is observed with a high prevalence of developmental delay, intellectual disability, autism spectrum disorders, and psychosis spectrum disorders. In most cases, a genetic cause of hyperprolinemia was known, these included mutations in the PRODH and ALDH4A1 genes and deletions of chromosome 22q11.2. No evidence for a biochemical phenotype-clinical phenotype correlation was found; that is, no association between higher proline levels and specific psychiatric phenotypes was observed. This suggests that genomic and environmental factors are likely to contribute to clinical outcomes. More studies are needed to clarify whether hyperprolinemia is a primary causal factor underlying the increased risk of developing psychiatric disorders seen in patients with hyperprolinemia, or whether hyperprolinemia and psychiatric disorders are both consequences of a shared underlying mechanism.
Topics: Case-Control Studies; Humans; Intellectual Disability; Phenotype; Proline; Proline Oxidase
PubMed: 34302426
DOI: 10.1002/ajmg.b.32869 -
American Journal of Medical Genetics.... Sep 2022Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad... (Review)
Review
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS.
Topics: Genotype; Humans; Intellectual Disability; Phenotype; Rubinstein-Taybi Syndrome
PubMed: 35730128
DOI: 10.1002/ajmg.a.62867 -
Current Environmental Health Reports Sep 2022Parental occupational exposures might be associated with neurodevelopmental disorders (NDDs) in offspring. We aimed to conduct a systematic review and meta-analysis to... (Meta-Analysis)
Meta-Analysis Review
PURPOSE OF REVIEW
Parental occupational exposures might be associated with neurodevelopmental disorders (NDDs) in offspring. We aimed to conduct a systematic review and meta-analysis to summarize and synthesize the current literature and to estimate the pooled magnitude of the underlying association(s) between parental occupational exposures and subsequent risk of NDDs.
RECENT FINDINGS
In the meta-analysis of 20 included studies, significant associations were found between parental occupational exposure to pesticides or solvents and the risk of attention deficit hyperactivity disorder in offspring. Prenatal occupational exposure to pesticides was significantly associated with motor development or cognition disorders in children. Furthermore, some evidence showed that metals might have a role in the development of autism spectrum disorders. Further studies need to identify the level of parental occupational exposures that can be significantly associated with NDDs. Moreover, utilizing standardized outcome and exposure scales is recommended to incorporate paternal, maternal, and parental as well as both prenatal and postnatal exposure in future studies.
Topics: Autism Spectrum Disorder; Child; Female; Humans; Maternal Exposure; Neurodevelopmental Disorders; Occupational Exposure; Pesticides; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 35522387
DOI: 10.1007/s40572-022-00356-6 -
Journal of Applied Research in... Jan 2023In recent years, third-wave therapies have risen to prominence. Research into adapting and evaluating third-wave therapies for adults with intellectual disabilities has... (Review)
Review
BACKGROUND
In recent years, third-wave therapies have risen to prominence. Research into adapting and evaluating third-wave therapies for adults with intellectual disabilities has identified that third-wave therapies are accessible, acceptable, and effective (improving a range of symptoms and skills).
METHOD
This meta-ethnography followed Noblit and Hare's approach to synthesising findings from qualitative studies to examine how adults with intellectual disabilities experience third-wave therapy groups. A systematic review of three databases identified 13 studies that met our inclusion criteria.
RESULTS
We identified that third-wave therapy groups can be a 'Transformational' process for adults with intellectual disabilities that involves three stages: 'Concealment', 'Opening up' and 'Flourishing'.
CONCLUSION
Findings highlight the importance of therapeutic processes; especially, working with defences, and developing and maintaining safety/trust. Recommendations include the development of an objective measure of group safety/trust.
Topics: Adult; Humans; Intellectual Disability; Anthropology, Cultural; Qualitative Research
PubMed: 36336795
DOI: 10.1111/jar.13045 -
Frontiers in Psychiatry 2022Psychiatric comorbidity in autism spectrum disorder (ASD) is a subject of critical scientific importance, affecting the quality of life, prognosis, and functional...
UNLABELLED
Psychiatric comorbidity in autism spectrum disorder (ASD) is a subject of critical scientific importance, affecting the quality of life, prognosis, and functional outcomes. The prevalence of psychiatric disorders vary considerably according to variables such as index subject characteristics, study setting, sampling frame, diagnostic methods used, as well as country of geographic origin. To date, most studies comprise clinical or treatment referral samples in tertiary care or subjects enrolled in clinical trials and genetic cohort collections. Such samples carry the potential for overestimation of both the frequency and severity of psychiatric comorbidity. A systematic literature search was performed using PubMed and Web of Science databases restricted to population-based study publications in the English between May 1, 2015, and May 31, 2020. A comprehensive keyword list was generated to investigate co-occurrence of psychiatric disorders in children and adolescents with ASD. A wide range of DSM-5 based disorders such as anxiety, mood, ADHD, intellectual disability/intellectual developmental disorder, eating/feeding, gender dysphoria and sleep-wake disorders were assessed. Initial search revealed a total of 1674 articles after removal of duplicates. Two independent researchers conducted a parallel-blinded screening process to identify the eligible studies based on titles and abstracts; 39 studies were analyzed in the current review. The main findings show prevalence estimates of 22.9% (95% CI: 17.7- 29.2) for intellectual disability; 26.2% (22-31) for attention-deficit hyperactivity disorder; 11.1% (8.6-14.1) for anxiety disorders; 19.7% (11.9-30.7) for sleep disorders; 7% (5.2- 9.3) for disruptive disorders; 2% (1.3- 3.1) for bipolar disorders; 2.7% (1.8- 4.2) for depression; 1.8% (0.4-8.7) for obsessive-compulsive disorder; and 0.6% (0.3-1.1) for psychosis. Psychiatric comorbidity in population-based studies is lower than in clinical and referred samples. However, our results also indicate that the frequency of psychiatric comorbidity in children and adolescents with ASD in the population context is considerable, without the influence of referral bias implicit in clinical and treatment samples. There is a need for better targeted diagnostic tools to detect psychiatric comorbidity in children and youth in future population-based studies, as an essential component in providing care as well as new insights into the nature and mechanisms of its underlying associations.
SYSTEMATIC REVIEW REGISTRATION
[https://www.crd.york.ac.uk/prospero/], identifier [CRD42021234464].
PubMed: 35693977
DOI: 10.3389/fpsyt.2022.856208 -
Journal of Neurodevelopmental Disorders Aug 2022CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological,... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
CHARGE syndrome (OMIM #214800) is a phenotypically complex genetic condition characterised by multi-system, multi-sensory impairments. Behavioural, psychological, cognitive and sleep difficulties are not well delineated and are likely associated with biopsychosocial factors.
METHODS
This meta-analysis investigated the prevalence of clinical features, physical characteristics and conditions, behavioural, psychological, cognitive and sleep characteristics in CHARGE syndrome, and statistically evaluated directional associations between these characteristics. Pooled prevalence estimates were calculated using reliable, prespecified quality weighting criteria, and meta-regression was conducted to identify associations between characteristics.
RESULTS
Of the 42 eligible studies, data could be extracted for 1675 participants. Prevalence estimates were highest for developmental delay (84%), intellectual disability (64%), aggressive behaviour (48%), self-injurious behaviour (44%) and sleep difficulties (45%). Meta-regression indicated significant associations between intellectual disability and choanal atresia, intellectual disability and inner ear anomalies, sleep difficulties and growth deficiency, and sleep difficulties and gross motor difficulties.
CONCLUSIONS
Our comprehensive review of clinical features, behavioural, psychological, cognitive and physical characteristics, conditions and comorbidities in CHARGE syndrome provides an empirically based foundation to further research and practice.
Topics: Aggression; CHARGE Syndrome; Humans; Intellectual Disability; Self-Injurious Behavior; Sleep Wake Disorders
PubMed: 36045324
DOI: 10.1186/s11689-022-09459-5 -
Journal of Intellectual Disability... Jun 2023In the general population, low self-esteem has been linked with poorer mental and physical health. This systematic literature review aimed to summarise and evaluate the... (Review)
Review
BACKGROUND
In the general population, low self-esteem has been linked with poorer mental and physical health. This systematic literature review aimed to summarise and evaluate the findings of studies that examined self-esteem in adults with intellectual disabilities and links with mental health outcomes.
METHOD
A systematic search of PsycINFO, Web of Science and CINAHL was conducted to identify studies published between 1990 and 2021. The studies were appraised using the QualSyst tool.
RESULTS
Twenty-six articles were identified of which two studies were removed from the review due to low quality. Studies reported mixed evidence regarding levels of self-esteem compared with the general population. Engagement in activities appeared to be linked with positive self-esteem, and perception of negative interpersonal life events as having a negative impact was associated with lower self-esteem. There was evidence of co-occurrence of low self-esteem and depression, but no studies examined the relationship between self-esteem and anxiety.
CONCLUSION
Reviewed studies provided mixed evidence on levels of self-esteem in this population, suggesting that factors such as engagement in life were related to higher self-esteem and demonstrating the co-occurrence of low self-esteem and depression. However, clear causal links have yet to be identified, and more research is needed using longitudinal designs to answer questions about trajectory.
Topics: Humans; Adult; Depression; Intellectual Disability; Anxiety; Anxiety Disorders; Self Concept
PubMed: 36855028
DOI: 10.1111/jir.13025 -
Developmental Neurobiology Mar 2021Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to informative studies in animal models that may... (Review)
Review
Ash1l potentially contributes to neurodevelopmental diseases. Although specific Ash1l mutations are rare, they have led to informative studies in animal models that may bring therapeutic advances. Ash1l is highly expressed in the brain and correlates with the neuropathology of Tourette syndrome (TS), autism spectrum disorder, and intellectual disability during development, implicating shared epigenetic factors and overlapping neuropathological mechanisms. Functional convergence of Ash1l generated several significant signaling pathways: chromatin remodeling and transcriptional regulation, protein synthesis and cellular metabolism, and synapse development and function. Here, we systematically review the literature on Ash1l, including its discovery, expression, function, regulation, implication in the nervous system, signaling pathway, mutations, and putative involvement in TS and other neurodevelopmental traits. Such findings highlight Ash1l pleiotropy and the necessity of transcending a single gene to complicated mechanisms of network convergence underlying these diseases. With the progress in functional genomic analysis (highlighted in this review), and although the importance and necessity of Ash1l becomes increasingly apparent in the medical field, further research is required to discover the precise function and molecular regulatory mechanisms related to Ash1l. Thus, a new perspective is proposed for basic scientific research and clinical interventions for cross-disorder diseases.
Topics: Animals; Autism Spectrum Disorder; DNA-Binding Proteins; Intellectual Disability; Neurodevelopmental Disorders; Tourette Syndrome
PubMed: 33258273
DOI: 10.1002/dneu.22795 -
Paediatric Respiratory Reviews Dec 2021Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems. (Review)
Review
CONTEXT
Down syndrome (DS) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems.
OBJECTIVES
To give a scoping overview of encountered lower airway problems (both infectious and non-infectious) in DS children.
DATA SOURCES
We systematically searched the MEDLINE and PubMed databases for relevant publications.
STUDY SELECTION
Studies were eligible if they were original studies about pediatric airway problems in DS and were evaluated by the PRISMA guidelines.
DATA EXTRACTION
Data concerning patient characteristics, study methods and outcomes were critically reviewed.
RESULTS
Sixty papers were included. These were reviewed and summarized by topic, i.e. airway anomalies, dysphagia and aspiration, lower respiratory tract infections (and bronchiolitis in particular), pulmonary hypertension and other. Respiratory problems are proven to be a frequent and a major health burden in DS children. Airway anomalies (both single and multiple) are more prevalent and require a specific approach. A large proportion of DS children have (often silent) aspiration, resulting in protracted and difficult-to-treat symptoms. Respiratory tract infections are usually more severe and associated with an increased need for (prolonged) hospitalization. Pulmonary hypertension, wheeze and some other rare conditions are more commonly encountered in DS.
LIMITATIONS
Large number of studies and high levels of study heterogeneity.
CONCLUSIONS
Several lower airway problems are more frequent and more complex in children with DS. These findings emphasize the need for a multidisciplinary approach by an experienced team allowing for a prompt diagnosis, proper management and improved long term outcome.
Topics: Child; Down Syndrome; Humans; Hypertension, Pulmonary; Respiration Disorders; Respiratory Sounds; Respiratory Tract Infections
PubMed: 34148805
DOI: 10.1016/j.prrv.2021.04.006 -
Neuroscience and Biobehavioral Reviews Jun 2022Brain co-morbidities in DMD are well-documented, less is known about the cognitive, behavioral and psychosocial functioning of patients with BMD. (Review)
Review
BACKGROUND
Brain co-morbidities in DMD are well-documented, less is known about the cognitive, behavioral and psychosocial functioning of patients with BMD.
METHODS
The systematic review was carried out on two databases (Pubmed and Scopus) according to the PRISMA guidelines. We included all research articles specific to BMD written after 1995.
RESULTS
Studies examining neuropsychological and neurobehavioral functioning in BMD are few and have several methods limitations. BMD population is characterized by high rates of cognitive impairment, with specific involvement of different cognitive areas. Unlike DMD, verbal skills are better preserved. Neurodevelopmental and emotional/behavioral disorders have great importance in BMD, due to their high prevalence. Lack of Dp140 or Dp71 can cause intellectual disability, these isoforms are probably responsible for the other brain-related comorbidities as well.
DISCUSSION
The results suggest that cognitive and neuropsychiatric comorbid symptoms may affect a significant proportion of BMD patients therefore it is important to mental health and neuropsychological screening. Finding tools for an adequate assessment is a priority in order to include brain outcome measures in clinical trials.
Topics: Brain; Cognition; Dystrophin; Humans; Muscular Dystrophy, Duchenne; Protein Isoforms
PubMed: 35367224
DOI: 10.1016/j.neubiorev.2022.104648