-
Children (Basel, Switzerland) Oct 2023This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional... (Review)
Review
This study examines the last 10 years of medical literature on the benefits of cochlear implantation in children who are deaf or hard of hearing (DHH) with additional disabilities. The most recent literature concerning cochlear implants (CIs) in DHH children with additional disabilities was systematically explored through PubMed, Embase, Scopus, PsycINFO, and Web of Science from January 2012 to July 2023. Our two-stage search strategy selected a total of 61 articles concerning CI implantation in children with several forms of additional disabilities: autism spectrum disorder, cerebral palsy, visual impairment, motor disorders, developmental delay, genetic syndromes, and intellectual disability. Overall, many children with additional disabilities benefit from CIs by acquiring greater environmental sound awareness. This, in turn, improves non-verbal communication and adaptive skills, with greater possibilities to relate to others and to be connected with the environment. Instead, despite some improvement, expressive language tends to develop more slowly and to a lesser extent compared to children affected by hearing loss only. Further studies are needed to better appreciate the specificities of each single disability and to personalize interventions, not restricting the analysis to auditory and language skills, but rather applying or developing cross-culturally validated instruments able to reliably assess the developmental trajectory and the quality of life of DHH children with additional disabilities before and after CI.
PubMed: 37892316
DOI: 10.3390/children10101653 -
Epilepsia Open Feb 2024Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type...
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
OBJECTIVE
Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological spectrum, focusing on the electroclinical characteristics and phenotypic differences of patients with ADSL deficiency.
PATIENTS AND METHODS
Seven patients, from four different families, underwent serial electroencephalogram (EEG), clinical assessment, and neuroimaging. We also performed a systematic review of the cases published in the literature, summarizing the available clinical, neurophysiological, and genetic data.
RESULTS
We report seven previously unreported ADSL deficiency patients with long-term follow-up (10-34 years). From the literature review, we collected 81 previously reported cases. Of the included patient population, 58 % (51/88) were classified as having ADSL deficiency type I, 28% (25/88) as having type II, and 14% (12/88) as having neonatal. The most frequently reported pathogenic variants are p.R426H homozygous (19 patients), p.Y114H in compound heterozygosity (13 patients), and p.D430N homozygous (6 patients). In the majority (89.2%), disease onset was within the first year of life. Epilepsy is present in 81.8% of the patients, with polymorphic and often intractable seizures. EEG features seem to display common patterns and developmental trajectories: (i) poor general background organization with theta-delta activity; (ii) hypsarrhythmia with spasms, usually adrenocorticotropic hormone-responsive; (iii) generalized epileptic discharges with frontal or frontal temporal predominance; and (iv) epileptic discharge activation in sleep with an altered sleep structure. Imaging features present consistent findings of cerebral atrophy with frontal predominance, cerebellar atrophy, and white matter abnormalities among the three types.
SIGNIFICANCE
ADSL deficiency presents variable phenotypic expression, whose severity could be partially attributed to residual activity of the mutant protein. Although a precise phenotype-genotype correlation was not yet feasible, we delineated a common pattern of clinical, neuroradiological, and neurophysiological features.
Topics: Infant, Newborn; Humans; Adenylosuccinate Lyase; Follow-Up Studies; Autistic Disorder; Epilepsy; Atrophy; Purine-Pyrimidine Metabolism, Inborn Errors
PubMed: 37842880
DOI: 10.1002/epi4.12837 -
Actas Espanolas de Psiquiatria Jul 2023Early intervention during childhood in patients with Autism Spectrum Disorder (ASD) has been strongly advocated. As adolescence is reached, new, more complex social...
Early intervention during childhood in patients with Autism Spectrum Disorder (ASD) has been strongly advocated. As adolescence is reached, new, more complex social demands emerge. These demands require a therapeutic approach that has not been widely studied. The aim of this review is to examine and synthesize the existing literature on social cognition interventions in adolescence and lay the groundwork for future interventions.
Topics: Humans; Adolescent; Autism Spectrum Disorder; Social Cognition; Cognition
PubMed: 37817736
DOI: No ID Found -
Cureus Sep 2023It is well established that people with autism spectrum disorder (ASD) have significantly higher rates of social anxiety, given that most autistic individuals experience... (Review)
Review
It is well established that people with autism spectrum disorder (ASD) have significantly higher rates of social anxiety, given that most autistic individuals experience socio-communication impairments, a deficit in social competence, and their experience in social engagement situations often leads to discomfort in social settings. Literature also finds that individuals on the spectrum are often at a higher risk of developing social anxiety, which is often misinterpreted as social anxiety disorder (SAD) leading to delays in the clinical diagnosis of ASD. Hence, an improved understanding of specific factors that put ASD individuals at risk of developing social anxiety will aid research to differentiate between social anxiety among individuals with ASD compared to non-ASD individuals facing social anxiety in general. This systematic review study focuses on empirical literature that provides evidence for reasons contributing to social anxiety among individuals with ASD. Following the systematic review methodology, the study evaluates 10 research papers. The results revealed several correlations that can be useful in helping explain why individuals with ASD are at a higher risk of developing SAD. Individuals with ASD often suffer severe social anxiety because they struggle to understand social cues, maintain eye contact, interpret non-verbal cues like facial expressions or body language, or participate in reciprocal conversation. Other cognitive factors include a preference toward predictable situations, intolerance for uncertainty, and a tendency toward rigid thinking patterns. Unpredictability in social settings often heightens anxiety levels in ASD individuals, making them avoid such situations. Other risk factors include emotional recognition impairments and reduced social competence. These findings serve as a guide to developing better intervention strategies to help individuals with ASD to overcome social anxiety.
PubMed: 37809175
DOI: 10.7759/cureus.44841 -
Frontiers in Psychiatry 2023Understanding the neurodevelopmental trajectories of infants and children is essential for the early identification of neurodevelopmental disorders, elucidating the... (Review)
Review
The use of functional near-infrared spectroscopy in tracking neurodevelopmental trajectories in infants and children with or without developmental disorders: a systematic review.
Understanding the neurodevelopmental trajectories of infants and children is essential for the early identification of neurodevelopmental disorders, elucidating the neural mechanisms underlying the disorders, and predicting developmental outcomes. Functional Near-Infrared Spectroscopy (fNIRS) is an infant-friendly neuroimaging tool that enables the monitoring of cerebral hemodynamic responses from the neonatal period. Due to its advantages, fNIRS is a promising tool for studying neurodevelopmental trajectories. Although many researchers have used fNIRS to study neural development in infants/children and have reported important findings, there is a lack of synthesized evidence for using fNIRS to track neurodevelopmental trajectories in infants and children. The current systematic review summarized 84 original fNIRS studies and showed a general trend of age-related increase in network integration and segregation, interhemispheric connectivity, leftward asymmetry, and differences in phase oscillation during resting-state. Moreover, typically developing infants and children showed a developmental trend of more localized and differentiated activation when processing visual, auditory, and tactile information, suggesting more mature and specialized sensory networks. Later in life, children switched from recruiting bilateral auditory to a left-lateralized language circuit when processing social auditory and language information and showed increased prefrontal activation during executive functioning tasks. The developmental trajectories are different in children with developmental disorders, with infants at risk for autism spectrum disorder showing initial overconnectivity followed by underconnectivity during resting-state; and children with attention-deficit/hyperactivity disorders showing lower prefrontal cortex activation during executive functioning tasks compared to their typically developing peers throughout childhood. The current systematic review supports the use of fNIRS in tracking the neurodevelopmental trajectories in children. More longitudinal studies are needed to validate the neurodevelopmental trajectories and explore the use of these neurobiomarkers for the early identification of developmental disorders and in tracking the effects of interventions.
PubMed: 37779610
DOI: 10.3389/fpsyt.2023.1210000 -
Global Public Health Jan 2023This article traces the origin, sustenance and implications of a persistent rumour that is responsible for low measles mumps and rubella (MMR) vaccination uptake in the...
This article traces the origin, sustenance and implications of a persistent rumour that is responsible for low measles mumps and rubella (MMR) vaccination uptake in the Somali diaspora in a number of countries across the globe. The rumour stipulates that the MMR vaccine - the silent shot - causes autism spectrum disorder (ASD). Although the association between MMR and ASD is non-causal, and various public health initiatives have promoted health information campaigns, the rumour continues to circulate in the Somali diaspora in many countries, including Sweden. This paper shows that there are valid reasons for this. The findings from this paper draw on a systematic scoping review and qualitative interview data from Sweden. The results show that the Somali community experiences higher than average rates of ASD compared to the general population. Moreover, ASD does not exist in the Somali language or their home country, is considered a Western disease that only affects Somali children in the diaspora, and is a highly stigmatised disease. Also, the Somali diaspora has had negative experiences with ASD diagnosis and care. The rumour has been sustained by the absence of an answer to their ASD fear and through active diaspora networks on social media. The network that surrounds the rumour has arguably further helped to create an epistemic community for a community whose concerns have been silenced.
Topics: Child; Humans; Autism Spectrum Disorder; Autistic Disorder; Human Migration; Language; Measles-Mumps-Rubella Vaccine; Somalia; Sustenance; Sweden
PubMed: 37750434
DOI: 10.1080/17441692.2023.2257771 -
Lived Experiences of Iranian Parents of Children with Autism Spectrum Disorder: A Systematic Review.Iranian Journal of Public Health Aug 2023Autism is a lifelong condition that seriously affects many aspects of children's and families' lives. The experience attained by living with a child with autism can be a... (Review)
Review
BACKGROUND
Autism is a lifelong condition that seriously affects many aspects of children's and families' lives. The experience attained by living with a child with autism can be a valuable source of information to provide support and satisfactory services to children with autism and their families. We aimed to investigate the lived experiences of Iranian parents of children with autism.
METHODS
The search was conducted in PubMed, Web of Science, Embase, Google Scholar, CINAHL, PsychInfo, SID, and Magiran until Nov 2021. Two reviewers screened the articles, applied inclusion criteria, critically evaluated articles using the Critical Appraisal Skills Program (CASP), and extracted study details according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Thematic synthesis was used to analyze included studies.
RESULTS
From 2772 articles in the initial search, sixteen studies entered the final analysis. Four themes emerged, including treatment-related lived experience, individual lived experience, social lived experience, and occupational lived experience. Iranian parents of children with autism are confronted with negative experiences, including inaccurate diagnostic processes, lack of adequate support at the diagnosis time, low-quality treatment, psychological problems, and concern about the child's future. Also, Parent's experiences showed family problems, stigma, and problems with doing occupations.
CONCLUSION
Practitioners, policy-makers, and regulatory organizations should urgently consider issues mentioned in the parents' experiences to provide proper healthcare services for children with autism and their families.
PubMed: 37744549
DOI: 10.18502/ijph.v52i8.13401 -
Cureus Sep 2023Autism spectrum disorder is made up of several disorders, which include autism, Asperger syndrome, and pervasive developmental disorder. Boys are four times more likely... (Review)
Review
Autism spectrum disorder is made up of several disorders, which include autism, Asperger syndrome, and pervasive developmental disorder. Boys are four times more likely to be diagnosed than girls with autism spectrum disorder, and symptoms usually become apparent by the age of three. Autism spectrum disorders' core characteristic features are abnormal interaction, impairment in communication, and stereotyped behaviors with restricted activities and interests. There are also non-core features associated with autism spectrum disorder, and these are aggression, self-injurious behavior, and tantrums. To date, there is no one drug approved to treat the core symptoms of autism spectrum disorder, but antipsychotic drugs such as risperidone have been shown to be effective at treating both core and non-core symptoms in controlled trials using multiple behavioral rating scales such as the Aberrant Behavioral Checklist subscale, the Clinical Global Impression Improvement Scale, the Ritvo-Freeman Real Life Scale, the Children's Yale-Brown Obsessive Compulsive Scale, the Vineland Adaptive Behavior Scale, and the Social Withdrawal Subscale. The safety, efficacy, acceptability, and tolerability of risperidone were assessed in these studies, and weight gain was a common side effect observed, but the outcome was usually mild and self-limiting. The effect of risperidone on cognition was explored in this article. The studies selected for this article were of small sample size and short duration, which presented limitations for treatment with risperidone and an area that needs to be explored further for its contribution to clinical practice.
PubMed: 37731686
DOI: 10.7759/cureus.45524 -
PloS One 2023This paper aimed to evaluate the use of nonpharmacological interventions for the management of autism spectrum disorder (ASD). The effects of acupuncture and behavioural... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND AIMS
This paper aimed to evaluate the use of nonpharmacological interventions for the management of autism spectrum disorder (ASD). The effects of acupuncture and behavioural therapy, two nonpharmalogical interventions, on social function in ASD patients are still controversial. This meta-analysis investigated the impact of these two treatments and compared their effects.
METHODS
Seven electronic databases were systematically searched to identify randomized controlled trials (RCTs) on the use of acupuncture or behavioural therapy for ASD. A meta-analysis was carried out using Review Manager 5.4 software. Continuous data are reported as mean differences (MDs) or standardized mean differences (SMDs) with 95% confidence intervals (CIs). An assessment of methodological quality using the Cochrane risk-of-bias (ROB) tool for trials was carried out. The Grading of Recommendation Assessment, Development, and Evaluation (GRADE) was applied to evaluate the quality (certainty) of evidence for results regarding social function indicators.
RESULTS
Thirty RCTs on acupuncture and 36 on behavioural therapy were included. Compared with the control condition, body acupuncture (SMD: 0.76, 95% CI: [0.52, 1.01]; low certainty), modern acupuncture technology (SMD: 0.84, 95% CI: [0.32, 1.35]; low certainty), cognitive behavioural therapy (SMD: 0.42, 95% CI: [0.26, 0.58]; high certainty), the Denver model (SMD: 0.61, 95% CI: [0.23, 0.99]; moderate certainty) and social skills training (SMD: 0.56, 95% CI: [0.41, 0.71]; moderate certainty) improved social functioning.
CONCLUSION
Behavioural therapies (such as CBT, the Denver model, social skills training), improved the social functioning of patients with ASD in the short and long term, as supported by high- and moderate-quality evidence. Acupuncture (including scalp acupuncture, body acupuncture and use of modern acupuncture technology) also improved social functioning, as supported by low- and very low-quality evidence. More high-quality evidence is needed to confirm the effect of acupoint catgut embedding and Early Intensive Behavioural Intervention (EIBI).
Topics: Humans; Adult; Child; Acupuncture Therapy; Behavior Therapy; Cognitive Behavioral Therapy; Acupuncture Points; Autism Spectrum Disorder
PubMed: 37725597
DOI: 10.1371/journal.pone.0291720 -
Brain, Behavior, and Immunity Nov 2023The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined.... (Review)
Review
The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined. The presence of immune dysregulations in autistic individuals, and their families, supports a role of the immune system and its genetic regulators. Albeit immune responses belong either to the innate or adaptive arms, the overall immune system genetics is broad, and encompasses a multitude of functionally heterogenous pathways which may have different influences on ASD. Hence, to gain insights on the immunogenetic underpinnings of ASD, we conducted a systematic literature review of previous immune genetic and transcription studies in ASD. We defined a list of immune genes relevant to ASD and explored their neuro-immune function. Our review confirms the presence of immunogenetic variability in ASD, accounted by inherited variations of innate and adaptive immune system genes and genetic expression changes in the blood and post-mortem brain of autistic individuals. Besides their immune function, the identified genes control neurodevelopment processes (neuronal and synaptic plasticity) and are highly expressed in pre/peri-natal periods. Hence, our synthesis bolsters the hypothesis that perturbation in immune genes may contribute to ASD by derailing the typical trajectory of neurodevelopment. Our review also helped identifying some of the limitations of prior immunogenetic research in ASD. Thus, alongside clarifying the neurodevelopment role of immune genes, we outline key considerations for future work into the aetiology of ASD and possible novel intervention targets.
PubMed: 37717669
DOI: 10.1016/j.bbi.2023.09.010