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Cortex; a Journal Devoted To the Study... Dec 2023Developmental regression describes when a child loses previously established skills, such as the ability to speak words and is most recognised in neurodevelopmental... (Review)
Review
Developmental regression describes when a child loses previously established skills, such as the ability to speak words and is most recognised in neurodevelopmental conditions including Autism; Developmental Epileptic Encephalopathies, such as Landau Kleffner syndrome, and genetic conditions such as Rett syndrome and Phelan McDermid syndrome. Although studies have reported developmental regression for over 100 years, there remain significant knowledge gaps within and between conditions that feature developmental regression. The certainty of evidence from earlier work has been limited by condition-specific studies, retrospective methodology, and inconsistency in the definitions and measures used for classification. Given prior limitations in the field, there is a paucity of knowledge about neurocognitive mechanisms, trajectories and outcomes for children with developmental regression, and their families. Here we provide a comprehensive overview, synthesise key definitions, clinical measures, and aetiological clues associated with developmental regression and discuss impacts on caregiver physical and mental health to clarify challenges and highlight future directions in the field.
Topics: Child; Humans; Retrospective Studies; Autistic Disorder; Epilepsy; Epilepsy, Generalized
PubMed: 37839389
DOI: 10.1016/j.cortex.2023.09.001 -
Revue Neurologique May 2024Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental and epileptic encephalopathies (DEE) are overlapping neurodevelopmental disorders... (Review)
Review
Developmental encephalopathies (DE), epileptic encephalopathies (EE) and developmental and epileptic encephalopathies (DEE) are overlapping neurodevelopmental disorders characterized by early-onset, often severe epileptic seizures, developmental delay, or regression and have multiple etiologies. Classical nosology in child neurology distinguished progressive and nonprogressive conditions. A progressive course with global cognitive worsening in DEE is usually attributed to severe seizures and electroencephalographic abnormalities whose deleterious effects interfere with developmental processes both in an apparently healthy brain and in an anatomically compromised one. Next generation sequencing and functional studies have helped identifying and characterizing clinical conditions, each with a broad spectrum of clinical and anatomic severity corresponding to a variable level of neurodegeneration, such that both a rapidly progressive course and considerably milder phenotypes with no obvious deterioration can be configured with mutations in the same gene. In this mini review, we present examples of genetic DEE that draw connections between neurodevelopmental and neurodegenerative disorders.
Topics: Humans; Neurodegenerative Diseases; Disease Progression; Epilepsy; Brain Diseases; Child; Neurodevelopmental Disorders
PubMed: 38582661
DOI: 10.1016/j.neurol.2024.03.004 -
Journal of Affective Disorders Apr 2022Theory of mind (ToM) is a social-cognitive skill that involves the ability to understand the thoughts and feelings of others. Evidence is mixed regarding the extent of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Theory of mind (ToM) is a social-cognitive skill that involves the ability to understand the thoughts and feelings of others. Evidence is mixed regarding the extent of ToM ability in individuals with depression.
METHODS
We conducted a meta-analysis of 43 studies to investigate the strength of the association between ToM and depression.
RESULTS
Results indicated significant, small- to moderate impairment in ToM with a medium overall effect size (g = -0.398) in individuals with depression. Moderator analyses compared effect sizes across groups for the following variables: ToM content, process, and sample type. Additionally, meta-regression analyses tested age and gender as continuous moderators.
LIMITATIONS
The cross-sectional nature of included studies limits this meta-analysis from clarifying temporal or bidirectional relations.
CONCLUSIONS
We discuss findings in the context of the extant developmental, cognitive, social, and clinical literatures. We also suggest several possible explanations for these findings and offer implications for intervention.
Topics: Cross-Sectional Studies; Depression; Emotions; Humans; Theory of Mind
PubMed: 35176344
DOI: 10.1016/j.jad.2022.02.028 -
Nutrients Apr 2022This systematic review aims to offer an updated understanding of the relationship between gastrointestinal symptoms (GIS) and autism spectrum disorder (ASD) in children... (Review)
Review
This systematic review aims to offer an updated understanding of the relationship between gastrointestinal symptoms (GIS) and autism spectrum disorder (ASD) in children and adolescents. The databases PsycINFO, Medline, Cinahl, and ERIC were searched using keywords, and relevant literature was hand-searched. Papers ( = 3319) were systematically screened and deemed eligible if they were empirical studies published in English since 2014 and measured the GIS of individuals with ASD who were under 18 years old. Thirty studies were included in the final review. The study findings were synthesized under eight themes, including the prevalence and nature of GIS and their relationship with developmental regression, language and communication, ASD severity, challenging behavior, comorbid psychopathology, sleep problems, and sensory issues. The review found that GIS were common and that there was contradictory evidence concerning their relationship with co-occurring conditions. It also identified evidence of some causal relationships that support the existence of the gut-immune-brain pathways. Future research needs to use large prospective designs and objective and standardized GIS measurements to provide a nuanced understanding of GIS in the context of ASD.
Topics: Adolescent; Autism Spectrum Disorder; Child; Comorbidity; Gastrointestinal Diseases; Humans; Problem Behavior; Prospective Studies
PubMed: 35406084
DOI: 10.3390/nu14071471 -
Neuroscience and Biobehavioral Reviews Dec 2019
Topics: Consensus; Humans; Regression, Psychology
PubMed: 31442516
DOI: 10.1016/j.neubiorev.2019.08.014 -
Frontiers in Psychology 2022Developmental and cognitive psychology recently started to take an interest in the sports domain, exploring the role of either cognitive functions or emotions in youth...
Developmental and cognitive psychology recently started to take an interest in the sports domain, exploring the role of either cognitive functions or emotions in youth sport. However, to the extent that cognition and emotions are inextricably linked, studying them jointly from a developmental perspective could inform on their interplay in determining performance in different sports. This research examined the role of general cognitive abilities, attentional style, and emotions (controlling for age and experience), in predicting performance in youth volleyball and artistic gymnastics. A total of 218 female participants, of which 114 volleyball players and 104 artistic gymnasts (11-17 years old) were administered two measures of working memory and six measures of executive functions (namely inhibition, updating, and shifting). They also completed an attentional style and an emotion-related questionnaire. For each volleyball player, an individual performance index based on every gesture performed during the games and controlled for the team performance was computed. As a measure of gymnasts' performance, scores in 2017-2018 competitions were used. Regression analysis showed that the main predictor of the volleyball players' performance (R = 0.23) was a working memory-updating factor (ß = 0.45, = 0.001), together with experience (ß = 0.29, = 0.030) and high-arousal unpleasant emotions (ß = 0.30, = 0.029), which positively predicted performance. Experience (ß = 0.30, = 0.011), age (ß = -0.036, = 0.005) and high-arousal unpleasant emotions (ß = -0.27, = 0.030) were the predictors of gymnasts' performance (R = 0.25). These results represent a first step in understanding if and how youth female athletes of open- and closed-skills sports rely on different psychological abilities. This line of research could offer insight to practitioners regarding which psychological abilities could be more relevant to train depending on the type of sport.
PubMed: 36033086
DOI: 10.3389/fpsyg.2022.954820 -
European Journal of Medical Genetics Jul 2023Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like...
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like regression, autism and mood disorders. In the development, implementation and dissemination of a new clinical guideline for a rare genetic disorder like PMS, the parental experienced perspective is essential. As information from literature is scarce and often conflicting the European Phelan-McDermid syndrome guideline consortium created a multi-lingual survey for parents of individuals with PMS to collect their lived experiences with care needs, genotypes, somatic issues, mental health issues and parental stress. In total, we analysed 587 completed surveys from 35 countries worldwide. Based on parental reporting, PMS appeared to be caused by a deletion of chromosome 22q13.3 in 78% (379/486) of individuals and by a variant in the SHANK3 gene in 22% (107/486) of the individuals. Parents reported a wide variety of developmental, neurological, and other clinical issues in individuals with PMS. The most frequently experienced issues were related to speech and communication, learning disabilities/intellectual disability, and behaviour. While most reported issues were present across all age groups and genotypes, the prevalence of epilepsy, lymphoedema, and mental health issues do appear to vary with age. Developmental regression also appeared to begin earlier in this cohort than described in literature. Individuals with PMS due to a 22q13.3 deletion had a higher rate of kidney issues and lymphoedema compared to individuals with SHANK3 variants. Parental stress was high, with specific contributing factors being child and context related in accordance with the PMS phenotype. The survey results led to various validated recommendations in the European PMS guideline including an age specific surveillance scheme, specific genetic counselling, structured healthcare evaluations on sleep and communication and a focus on family well-being.
Topics: Humans; Intellectual Disability; Chromosome Disorders; Chromosome Deletion; Parents; Chromosomes, Human, Pair 22
PubMed: 37120079
DOI: 10.1016/j.ejmg.2023.104771 -
Journal of Child Psychology and... Nov 2022Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive feature of autism. Little is known about the factors...
BACKGROUND
Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive feature of autism. Little is known about the factors underlying regression or the prognosis of children who exhibit regression. We examine potential predictors of language regression and test its association with language development in a prospective longitudinal sample of children with autism spectrum disorder (ASD) from diagnosis to age 10 years.
METHODS
We analysed data from Pathways in ASD, a prospective longitudinal study of 421 children enrolled around the time of an autism diagnosis between 2 and 5 years. Autism Diagnostic Interview-Revised data were available for 408 children, of whom 90 (22%) were classified as having language regression.
RESULTS
Demographic and other health factors including caregiver education, family income, child sex, reported seizures, and age of enrolment did not differ between children with and without language regression. Children with language regression walked earlier and attained first words sooner than those without regression. However, both groups attained phrase speech at comparable ages. Those with regression exhibited greater delays in expressive and receptive communication over the follow-up period, although this effect was attenuated when accounting for baseline differences in motor and cognitive ability. Overall, those with language regression continued to exhibit expressive but not receptive communication delay compared to those without regression. Communication trajectories were heterogeneous to age 10 years, irrespective of regression status.
CONCLUSIONS
Although language regression can be alarming, our findings confirm that its occurrence does not necessarily foreshadow worse developmental outcomes relative to those without regression. Although a discrepancy in age-equivalent communication skills may persist, this can be expected to be of less practical importance with rising average levels of skills. Future studies need to account for the significant variability in language trajectories by considering factors beyond developmental regression.
Topics: Child; Child, Preschool; Humans; Autism Spectrum Disorder; Autistic Disorder; Longitudinal Studies; Prospective Studies; Language Development Disorders; Speech; Language Development
PubMed: 35098539
DOI: 10.1111/jcpp.13565 -
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 -
Translational Psychiatry Dec 2022Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most...
Early regression (ER) is often reported in autistic children with a prototypical phenotype and has been proposed as a possible pathognomonic sign present in most autistic children. Despite the uncertainties attached to its definition and report, using ER to anchor the autism phenotype could help identify the signs that best contribute to an autism diagnosis. We extracted retrospective data from 1547 autistic children between the ages of 6 and 18 years from the Simons Simplex collection. Logistic regression identified the atypicalities associated with a history of ER. Stepwise variable selection using logistic regression analysis followed by a bootstrap procedure of 1000 iterations identified the cluster of atypicalities best associated with ER. Linear and logistic regressions measured the association between combinations of atypicalities within the identified cluster and adaptative behaviors, diagnostic areas of severity, and other categories. Seven atypicalities significantly increased the likelihood of having experienced ER (OR = 1.73-2.13). Four ("hand leading-ever", "pronominal reversal-ever", "never shakes head at age 4-5" and "stereotypic use of objects or interest in parts of objects-ever"), when grouped together, best characterized the phenotype of verbal autistic children with ER. This clustering of signs was associated with certain persistent language difficulties, higher summary scores on a diagnostic scale for autism, and greater odds of receiving an "autistic disorder" diagnosis instead of another pervasive developmental disorder (PDD) diagnosis. These results raise questions about using language as a clinical specifier, defining cross-sectional signs independent of their relationship with an early developmental trajectory, and relying on polythetic criteria or equivalent weighted autistic atypicalities.
Topics: Humans; Autistic Disorder; Cross-Sectional Studies; Retrospective Studies; Autism Spectrum Disorder; Stereotyped Behavior
PubMed: 36456542
DOI: 10.1038/s41398-022-02263-8