1. Al-Beltagi M. Nutritional management and autism spectrum disorder: A systematic review. World J Clin Pediatr. 2024; 13(4): 99649.

BACKGROUND: Autism spectrum disorder (ASD) presents unique challenges related to feeding and nutritional management. Children with ASD often experience feeding difficulties, including food selectivity, refusal, and gastrointestinal issues. Various interventions have been explored to address these challenges, including dietary modifications, vitamin supplementation, feeding therapy, and behavioral interventions. AIM: To provide a comprehensive overview of the current evidence on nutritional management in ASD. We examine the effectiveness of dietary interventions, vitamin supplements, feeding therapy, behavioral interventions, and mealtime practices in addressing the feeding challenges and nutritional needs of children with ASD. METHODS: We systematically searched relevant literature up to June 2024, using databases such as PubMed, PsycINFO, and Scopus. Studies were included if they investigated dietary interventions, nutritional supplements, or behavioral strategies to improve feeding behaviors in children with ASD. We assessed the quality of the studies and synthesized findings on the impact of various interventions on feeding difficulties and nutritional outcomes. Data extraction focused on intervention types, study designs, participant characteristics, outcomes measured, and intervention effectiveness. RESULTS: The review identified 316 studies that met the inclusion criteria. The evidence indicates that while dietary interventions and nutritional supplements may offer benefits in managing specific symptoms or deficiencies, the effectiveness of these approaches varies. Feeding therapy and behavioral interventions, including gradual exposure and positive reinforcement, promise to improve food acceptance and mealtime behaviors. The findings also highlight the importance of creating supportive mealtime environments tailored to the sensory and behavioral needs of children with ASD. CONCLUSION: Nutritional management for children with ASD requires a multifaceted approach that includes dietary modifications, supplementation, feeding therapy, and behavioral strategies. The review underscores the need for personalized interventions and further research to refine treatment protocols and improve outcomes. Collaborative efforts among healthcare providers, educators, and families are essential to optimize this population’s nutritional health and feeding practices. Enhancing our understanding of intervention sustainability and long-term outcomes is essential for optimizing care and improving the quality of life for children with ASD and their families.

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2. Angel L, Ailey SH, Delaney KR, Mohr L. Measuring Depressive Symptoms in Individuals with Autism Spectrum Disorders (ASD): A Scoping Review. West J Nurs Res. 2024: 1939459241304527.

BACKGROUND: Research indicates a high prevalence of depressive disorders in individuals with autism spectrums disorders (ASD), highlighting a need for depression screening in this population. Both depression screening tools used in the general population and tools developed specifically for individuals with ASD are used in the ASD population. Because depressive symptoms may manifest differently in individuals with ASD, it is important to establish the psychometric properties of depression instruments in individuals with ASD to determine whether and how these instruments can be applied in assessing these individuals. OBJECTIVE: Our objective was to synthesize knowledge regarding the psychometric properties of (a) depression instruments developed for the general populations and (b) depression instruments developed specifically for individuals with ASD. METHODS: A scoping review was conducted using Covidence to identify, screen, and review available literature on the use and psychometric properties of generalized and ASD-specific depression instruments in individuals with ASD. RESULTS: Results for both generalized and ASD-specific instruments indicated moderate psychometric strength, enough for these instruments to be potentially helpful in psychiatric assessments but not enough to be conclusive on their own. The data are limited by the small number of studies examining this population, that is, only 1 to 3 articles for each instrument, and the often-limited number of psychometric measurements taken in each study. CONCLUSIONS: As the prevalence of depression in individuals with ASD is high, reliable and valid measures are needed. Current research shows some support for existing instruments, although additional, more robust research is needed.

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3. Bacova Z, Havranek T, Mihalj D, Borbelyova V, Kostrubanicova K, Kramarova M, Ostatnikova D, Bakos J. Reduced Neurite Arborization in Primary Dopaminergic Neurons in Autism-Like Shank3B-Deficient Mice. Mol Neurobiol. 2024.

Despite many studies on dopamine changes in autism, specific alterations in midbrain dopamine neurons projecting to the striatum and cortex remain unclear. Mouse models with diverse SH3 domain and ankyrin repeat containing protein 3 (Shank3) deficiencies are used for investigating autistic symptoms and underlying neurobiological mechanisms. SHANK3 belongs to postsynaptic proteins crucial for synapse formation during development, and disruptions in SHANK3 structure could lead to impaired neurite outgrowth and altered dendritic arborization and morphology. Therefore, we aimed to investigate whether Shank3 deficiency (Shank3B) leads to changes in the morphology of primary neuronal cell cultures from dopaminergic brain regions of neonatal mouse pups and whether it results in alterations in synaptic proteins in dopaminergic nerve pathway projection areas (striatum, frontal cortex). Significantly reduced neurite outgrowth was observed in primary dopaminergic neurons from the midbrain and striatum of Shank3-deficient compared to WT mice. A decrease in Synapsin I immunofluorescence signal in the cortical neurons isolated from Shank3-deficient mice was found, although neurite arborization changes were less severe. Importantly, the deficit in the length of the longest neurite was confirmed in primary cortical neurons isolated from Shank3-deficient mice. No changes in the gene expression of synaptic proteins were observed in the striatum and frontal cortex of Shank3-deficient mice, but an altered gene expression profile of dopaminergic receptors was found. These results show structural changes of dopaminergic neurons, which may explain autistic symptomatology in the used model and provide a basis for understanding the long-term development of autistic symptoms.

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4. Borba R, Falcão J, Freitas T, Marques C, Nóbrega L, L OV, Sallum J, C VV, Higino T, Rocha C, Wheeler AC. Assessment of Affordances in the Home Environment and Neurodevelopment of Children With Congenital Zika Syndrome. Child Care Health Dev. 2025; 51(1): e70015.

BACKGROUND: Congenital Zika syndrome (CZS) is characterized by brain abnormalities caused by in utero exposure to the Zika virus (ZIKV), resulting in significant neurodevelopmental, motor and visual impairments in affected children. These impairments hinder their ability to engage in social interactions and explore their surroundings. However, personalized and continuous sensory stimulation, particularly within the home environment, may play a crucial role in supporting motor and visual development in these children. Therefore, this study aimed to explore the relationship between sensory stimulation in the home environment and the motor and visual development of children with CZS. METHOD: This cross-sectional study included children with CZS. The Affordances in the Home Environment for Motor Development (AHEMD) instrument was administered to caregivers to assess motor stimulation opportunities at home. All children underwent neurodevelopmental milestone assessments using the Brazilian Portuguese version of the Bayley Scales of Infant Development-Third Edition (BSID-III). Gross motor function was further assessed with the Gross Motor Function Measure (GMFM), and functional vision was evaluated by using the functional vision developmental milestones test (FVDMT). RESULTS: Eighty-five children with a mean age of 39.9 ± 2.3 (24.0-42.0) months were included. Forty-one children (48.2%) lived in homes with ‘very weak’ environmental stimulation. The children showed profound developmental delays in all domains of the BSID-III with an average neurodevelopmental age of 39.9 ± 2.3 (24-42) months. On the GMFM, over 90.0% of children could not initiate or maintain the required movements and postures for sitting, crawling, standing, walking, running and jumping. A significant positive correlation was found between the variety of home sensory stimulation with the AHEMD and the scores at the BSID-III motor scales as well as the GMFM. More fine motor materials in the home context correlated with better gross motor scores on the BSID-III (p = 0.016), increased likelihood of passing the ‘sitting’ (p = 0.041) and ‘standing’ (p = 0.019) items of the GMFM. Children with less visual impairment in parameters of the FVDMT [‘eye contact’ (p = 0.032), ‘social smile’ (p = 0.031) and ‘movements to achieve’ (p = 0.007)] had more stimulating home environment. CONCLUSION: Nearly half of the children with CZS who exhibited neurodevelopmental delays lived in homes lacking appropriate sensory stimulation. This study suggests that motor and visual development, including fine and gross motor skills as well as functional vision, may be benefited by the quantity and quality of play and stimulation opportunities available at home.

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5. Chiperi LE, Hagau AC, Tecar C, Hutanu A, Muntean I. Brain-derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects. Int J Dev Neurosci. 2025; 85(1): e10400.

INTRODUCTION: The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the surgical treatment of the CHD. METHODS: This cross-sectional study included children with CHD who did not receive treatment (interventional or cardiac surgery). Psychomotor development was evaluated using the Denver II Screening Test. Blood samples were collected for neuromarkers analysis: neuron-specific enolase (NSE), protein S100 (pS100), brain-derived neurotrophic factor (BDNF), and glial fibrillary acidic protein (GFAP). RESULTS: We enrolled 77 children. Patients with CHD experienced more frequent developmental delays compared to healthy children (12-34% in the non-cyanotic group and 26-74% in the cyanotic group). The association between type of CHD and psychomotor impairment was statistically significant (p < 0.0001, RR = 2.604, CI = 2.07-3.26). Neuromarkers value was compared between cyanotic and non-cyanotic groups: NSE and BDNF values were higher in the cyanotic group, respectively, pS100 and GFAP had slightly higher values in the non-cyanotic group. A correlation coefficient of 0.35 (p = 0.023) was obtained between psychomotor development and BDNF level. An AUC of 0.72 was obtained for psychomotor development and BDNF in ROC analysis with the cut-off value of 5895 pg/ml. CONCLUSION: BDNF is showing moderate discriminative ability in predicting psychomotor development outcomes in pediatric patients with CHD.

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6. Granata P, Zito A, Cocciadiferro D, Novelli A, Pessina C, Mazza T, Ferri M, Piccinelli P, Luoni C, Termine C, Fasano M, Casalone R. Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder. BMC Genomics. 2024; 25(1): 1186.

BACKGROUND: Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the genetic basis of essential ASD using whole exome sequencing (WES) and array-comparative genomic hybridization (array-CGH). RESULTS: In a cohort of 122 children with essential ASD, WES detected 382 variants across 223 genes, while array-CGH identified 46 copy number variants (CNVs). The combined use of WES and array-CGH revealed pathogenic variants in four patients (3.1% detection rate) and likely pathogenic variants in 34 patients (27.8% detection rate). Only one patient had a pathogenic CNV (0.8% detection rate). Including likely pathogenic variants, the overall detection rate was 31.2%. Additionally, 33 de novo heterozygous sequence variants were identified by WES, with three classified as pathogenic and 13 as likely pathogenic. Sequence variants were found in 85 genes already associated with ASD, and 138 genes not previously included in the SFARI dataset were identified as potential new candidate genes. CONCLUSIONS: The study enhances genetic understanding of essential ASD and identifies new candidate genes of interest. The findings suggest that using both array-CGH and WES in patients with essential ASD can improve the detection of pathogenic and likely pathogenic genetic variants, contributing to better diagnosis and potentially guiding future research and treatment strategies.

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7. Hamilton A, Tallberg P, Ilahi F, Hoff E, Ahmadi B, Daukantaitė D. Behavioral manifestations of executive functioning in Swedish youth with ADHD, autism, and psychiatric comorbidity: a comparative analysis with community controls. Child Neuropsychol. 2024: 1-20.

While several rating scales reliably and cost-effectively assess behavioral executive functioning (EF) in youths with neurodevelopmental disorders (NDDs), questions remain about the impact of comorbidities and dual NDDs on EF as measured by these scales in clinical samples. This study compared behavioral EF profiles among youths with NDDs, both with and without psychiatric comorbidities, non-NDDs (e.g. anxiety), and controls, as well as youths with single versus dual NDDs. The comparisons were made using the Swedish version of the Behavior Rating Inventory of Executive Function (BRIEF-2) parent form. Participants included 79 youths (mean [SD] age 12.1 [3.0]; 50.6% girls) diagnosed with various psychiatric conditions, and 151 matched controls (mean [SD] age 12.4 [2.8]; 51.7% girls). Results showed significant differences with very large effect sizes in all behavioral EF domains among youths with NDDs, regardless of whether they had non-NDD psychiatric comorbidities, compared to youths with non-NDDs or controls. The latter two groups differed in six of eight behavioral EF domains, with the Shift domain showing the largest effect size (Cohen’s d = 0.94). Surprisingly, no significant differences were found between the NDD-only group and the NDD group with non-NDD psychiatric comorbidities. Youths with dual NDDs had more deficits in four of the nine behavioral EF domains compared to those with a single NDD, with the Shift domain again showing the largest effect size (Cohen’s d = 0.91). This study highlights the essential role of NDD in distinguishing clinically significant parent-rated behavioral EF deficits in youths, regardless of other psychiatric diagnoses.

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8. Lee D, Frey GC, Shih PC. Gamified Mobile Health Strategies for Promoting Physical Activity in Autistic Adults. Exerc Sport Sci Rev. 2024.

Physical inactivity and sedentarism among autistic adults are a growing public health concern. Focusing on the integration of behavior change theories and emphasizing the unique preference for visuospatial learning and gaming technology, we hypothesize that gamified mobile health (mHealth) applications can be effective at increasing free-living physical activity and reducing sedentary behavior in autistic adults.

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9. Mokhtar Tawfeek ES, Aly Abou Elez Gawish S, Hamed WS, Asker SA. Construction of an animal model of autism based on interaction between cerebellar histological, immunohistochemical, and biochemical changes in adult male albino rat. Ultrastruct Pathol. 2024: 1-19.

METHODS: Twelve pregnant female rats were divided into a control group and a valproic acid (VPA) treated group (injected intraperitoneally on embryonic day 12 with 600 mg/kg body weight of VPA). Neurobehavioral tests were conducted on the offspring of both groups. The cerebellum was studied by light and electron microscopy as well as GFAP and caspase-3 immunohistochemical staining. RESULTS: The VPA-treated group showed signs of neuronal degeneration, such as congested blood vessels, vacuolations, irregularly shrunken with dark small heterochromatic nuclei and numerous apoptotic blebs in the Purkinje and granule cells with vacuolated cerebellar glomeruli. The myelinated nerve fibers showed rarefaction and loss of their neurofilaments. GFAP and caspase-3 immune expression were significantly altered in the VPA-treated group. CONCLUSION: The VPA rat model can serve as an excellent model of autism at the structural level, which may be used as a validated model in preclinical studies to evaluate novel drugs.

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10. Moseley RL, Hedley D, Gamble-Turner JM, Uljarević M, Bury SM, Shields GS, Trollor JN, Stokes MA, Slavich GM. Lifetime stressor exposure is related to suicidality in autistic adults: A multinational study. Autism. 2024: 13623613241299872.

When we encounter life events that we experience as stressful (« stressors »), it sets off a biological stress response that can impact mental health and contribute to suicidal thoughts and behaviors (STB). Although we know about specific stressors that are associated with STB in the general population, little is known about the kinds of stressors that increase the risk of STB in autistic people and whether these associations differ by gender. To examine this issue, we cataloged the life stressors that autistic men and women experienced over the entire life course and investigated how these stressors were related to STB. Data were derived from a multinational sample of 226 autistic adults from the United Kingdom and Australia who completed the Stress and Adversity Inventory for Adults. We found that autistic men and women differed in terms of both the lifetime stressors they experienced as well as their perceived severity. Whereas men experienced more legal/crime-related stressors, women experienced more stressors related to relationships with other people and more long-lasting stressors associated with humiliation. Autistic women often perceived life stressors as more severe than men, which is important given that it is the perceived severity of stressors that most strongly affects our health. We also found that different stressors may predict STB in autistic men versus women. Whereas loss of loved ones was most strongly associated with STB for men, for women, physically dangerous stressors were most relevant. In addition, women with fewer lifetime stressors involving entrapment had higher lifetime STB. These results suggest that lifetime stressor exposure may be important to assess to understand suicide risk in autistic people. Additional research is needed to confirm these associations and to examine possible mechanisms linking stress and STB.

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11. Roberts C, Symons F. The critical insight of family caregivers of individuals with intellectual and developmental disability and severe self-injurious behavior. Dev Med Child Neurol. 2024.

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12. Saleh SR, Alaoufi HM, Eltantawy MM. Parental satisfaction with the quality of services provided to persons with autism spectrum disorder and their families in Saudi Arabia. Front Psychiatry. 2024; 15: 1469513.

The services provided to persons with autism spectrum disorder (ASD) and their families are considered the basic factors that help families meet their needs and those of their children. These services help persons with ASD attain an appropriate level of independence within the society. Therefore, this study aimed to assess the Parents’ satisfaction with the quality of services related to family guidance and education, diagnostic and evaluation services, support and intervention services, and services that aim to improve equal opportunities and life quality among persons with ASD and their parents in Saudi Arabia. This study also aimed to identify the differences in the quality of these services with regard to the age stage of the person with ASD. The study sample consisted of 301 parents of persons with ASD, including 93 fathers and 208 mothers. In this study, a quantitative approach through a questionnaire was used to collect data. Results of this study showed that the parents participating in the study reported the availability of services at an unsatisfactory level with regard to family guidance and education services, support and intervention services, and services that help to improve life quality and equal opportunities. Although the quality of diagnostic and evaluation services was satisfactory, the results indicated no differences in the quality of these services based on the ages of the persons with ASD. The results of this study indicated the importance of developing these services and subjecting them to international quality standards.

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13. Shnitzer-Meirovich S, Aviad S, Bechar-Katz I, Araten-Bergman T, Shenaar-Golan V, Gur A. The associations between child behavioral problems, parents’ emotional regulation difficulties, and parental burnout among Israeli parents of children with autism during wartime. Front Psychol. 2024; 15: 1439384.

INTRODUCTION: Parents of children with Autism Spectrum Disorder (ASD) face heightened challenges during crises like war, leading to parental burnout (PB). Wartime demands may exacerbate the children’s behavioral difficulties, which associated with PB. Successful emotional regulation (ER) is considered a protective factor for PB. This study aimed to explore the associations between the child behavioral problems, parent’s ER difficulties and PB among parents of children ASD during wartime. METHODS: 92 parents completed demographic, Parental Burnout, Difficulties in Emotion Regulation, and Child Aberrant Behavior questionnaires. In addition, 18 parents of children with ASD aged 6-21 were semi-interviewed. RESULTS: During wartime, child behavioral problems and parents’ ER difficulties were positively correlated with PB, contributing beyond background characteristics and other changes following the war. Parent ER difficulties serve as a mediation variable and did not function as a moderation variable between child behavioral problems and PB. DISCUSSION: This study emphasizes the increased vulnerability of parents of children with ASD during wartime, highlighting the need for a deeper understanding of how these circumstances affect parental risk and resources. Effective interventions should target emotional regulation and address child behavioral issues, necessitating prioritized support for affected families despite wartime challenges.

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14. Tromans S, Summers I, Abdullah S, Ledger J, Lennard S, Bassett P, Colledge R, Bilkey D, Staples C, Edwards S, Carr G, Laugharne R, Shankar R. Understanding the current provisions of support for people with an intellectual disabilities and/or autism in crisis: A mixed methods study. Int J Soc Psychiatry. 2024: 207640241303831.

BACKGROUND: There has been significant reduction in inpatient beds for people with intellectual disability and/or autism (PwID/A) in the UK in the last decade following high profile national scandals in specialist psychiatric hospitals. To reduce inappropriate admissions a new strategy (Blue-Light, an emergency multi-disciplinary meeting to prevent admission to hospital) was introduced. However, there is no research on the influence of Blue-Light on crisis management for PwID/A. AIM: To assess Blue-Light’s impact on PwID/A’s crisis presentations. METHODS: Co-produced with experts-by-experience, a mixed methods approach using a 13 question Likert based survey of health and social-care professionals along with semi-structured interviews of carers involved with consecutive Blue-Light patient reviews was undertaken in Cornwall UK (population: 538,000). Patient data was accessed to understand the patient journey. All data analysis was descriptive in nature. Semi-structured interviews were transcribed and thematically analysed using Braun and Clarke’s six-step process. RESULTS: Ten patient journeys were examined. Staff interviewed had a good understanding of the Blue-Light process, Blue-Light activation practical challenges and considered Blue-Light reactive. Nearly half wanted ID/A specialist beds recommissioned. A majority wanted improved supervision and standards for third sector providers. Semi-structured interviews of 10 patient-carers identified a lack of consistency from professionals, limited infrastructure provision, the prolongation of crises and a lack of definition of crisis as carers did not feel supported by services. CONCLUSIONS: Current crisis support systems are not standardised and often leave carers feeling unsupported in crises. An evidence-based debate of crisis support and the inpatient role for PwID/A is required.

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15. Viljoen M, Seris N, Shabalala N, Ndlovu M, de Vries PJ, Franz L. Adapting an early autism caregiver coaching intervention for telehealth delivery in low-resource settings: A South African study of the ‘what’ and the ‘why’. Autism. 2024: 13623613241300774.

We were busy with an early autism caregiver-coaching programme in South Africa, when COVID-19 stopped all in-person work. We changed the programme so it could be done using computers and/or phones. Here, we describe programme changes (which we call the ‘what’) and the reasons for those changes (which we call the ‘why’). We used a tool called the Framework for Modification and Adaptations (FRAME) to describe the ‘what’, and the Exploration, Preparation, Implementation, Sustainment (EPIS) framework to describe the ‘why’ of our programme changes. The team members who helped make these changes checked that the changes described were correct. We made 10 changes in total: we used WhatsApp to deliver the programme, made simple pictures with words as visual tools for the programme, changed some session activities, changed a self-reflection checklist, provided all activities online, changed the way assessment and consent was done, made a session recording guide, sent things needed for sessions by email and WhatsApp, and made a caregiver-child play recording guide. The reasons for changes (the ‘why’) were about factors outside schools (the types of phones and data people had, WhatsApp security rules, COVID-19 rules), things inside schools/workplace (about the caregivers and nonspecialists themselves, ethics boards, things about the school itself), and support from people who developed the programme. Changes were made by working with things inside schools/workplace that could change. Identifying what could change helped focus and guide which changes were made to a programme.

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16. Yi T, Li W, Wei W, Wu G, Jiang G, Gao X, Jin K. Limbic/paralimbic connection weakening in preschool autism-spectrum disorder based on diffusion basis spectrum imaging. Eur J Neurosci. 2025; 61(1): e16615.

This study aims to investigate the value of basal ganglia and limbic/paralimbic networks alteration in identifying preschool children with ASD and normal controls using diffusion basis spectrum imaging (DBSI). DBSI data from 31 patients with ASD and 30 NC were collected in Hunan Children’s Hospital. All data were imported into the post-processing server. The most discriminative features were extracted from the connection, global and nodal metrics separately using the two-sample t-test. To effectively integrate the multimodal information, we employed the multi-kernel learning support vector machine (MKL-SVM). In ASD group, the value of global efficiency, local efficiency, clustering coefficient and synchronization were lower than NC group, while modularity score, hierarchy, normalized clustering coefficient, normalized characteristic path length, small-world, characteristic path length and assortativity were higher. Significant weaker connections are mainly distributed in the limbic/paralimbic networks. The model combining consensus connection, global and nodal graph metrics features can achieve the best performance in identifying ASD patients, with an accuracy of 96.72%.The most specific brain regions connection weakening associated with preschool ASD are predominantly located in limbic/paralimbic networks, suggesting their involvement in abnormal brain development processes. The effective combination of connection, global and nodal metrics information by MKL-SVM can effectively distinguish patients with ASD.

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17. Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Atik Altınok Y, Eraslan C, Aykut A, Durmaz A, Habif S, Kalkan Ucar S, Coker M. Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes. Eur J Pediatr. 2024; 184(1): 72.

Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively. This study presents the clinical, biochemical, genetic, and neuroimaging findings of 15 patients (six males, nine females) from 13 families diagnosed with GA1. The median age at diagnosis was 20 months, and the median follow-up period was 72 months. Developmental delay was observed in 66.7% of patients, with 46.7% experiencing seizures and 33.3% suffering from encephalopathic crises. Biochemical analyses showed elevated levels of glutaric acid and 3-hydroxyglutaric acid in 93.3% and 80% of patients, respectively. Genetic testing identified the p.Arg402Trp variant in 53.3% of patients. Neurological evaluations revealed delays in motor and speech development, with 66.7% of patients never achieving the ability to walk. Cranial MRI indicated white matter changes in all patients and basal ganglia involvement in 93.3%. Despite significant biochemical improvements with treatment in glutaric acid levels and head circumference over time, neurological deficits remain unchanged. Growth parameters such as body weight showed significant decreases due to poor neurological outcomes. CONCLUSION: The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure timely diagnosis and treatment. WHAT IS KNOWN: • Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. If untreated, it often leads to severe neurological complications. Early diagnosis and treatment are crucial for improving clinical outcomes in GA1 patients. WHAT IS NEW: • This study presents comprehensive data from a cohort of 15 Glutaric aciduria type 1 (GA1) patients, detailing their biochemical, genetic, clinical, and neuroimaging findings. Drawing attention to the severe neurological findings in late-diagnosed patients underscores the critical importance of including GA1 in newborn screening programs to enhance early diagnosis and prevent severe outcomes.

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18. Zhang Y, Lin L, Zhou D, Song Y, Stein A, Zhou S, Xu H, Zhao W, Cong F, Sun J, Li H, Du F. Age-related unstable transient states and imbalanced activation proportion of brain networks in people with autism spectrum disorder: A resting-state fMRI study using coactivation pattern analyses. Netw Neurosci. 2024; 8(4): 1173-91.

The atypical static brain functions related to the executive control network (ECN), default mode network (DMN), and salience network (SN) in people with autism spectrum disorder (ASD) has been widely reported. However, their transient functions in ASD are not clear. We aim to identify transient network states (TNSs) using coactivation pattern (CAP) analysis to characterize the age-related atypical transient functions in ASD. CAP analysis was performed on a resting-state fMRI dataset (78 ASD and 78 healthy control (CON) juveniles, 54 ASD and 54 CON adults). Six TNSs were divided into the DMN-TNSs, ECN-TNSs, and SN-TNSs. The DMN-TNSs were major states with the highest stability and proportion, and the ECN-TNSs and SN-TNSs were minor states. Age-related abnormalities on spatial stability and TNS proportion were found in ASD. The spatial stability of DMN-TNSs was found increasing with age in CON, but was not found in ASD. A lower proportion of DMN-TNSs was found in ASD compared with CON of the same age, and ASD juveniles had a higher proportion of SN-TNSs while ASD adults had a higher proportion of ECN-TNSs. The abnormalities on spatial stability and TNS proportion were related to social deficits. Our results provided new evidence for atypical transient brain functions in people with ASD. This article reveals the age-related atypical transient brain functions in autistic people. The default mode network dominates major states during rest, while the executive control network and salience network dominates minor states. Major states have more a stable coactivation patterns and higher proportion than minor states. The spatial stability would increase with age in healthy controls but not in autistic people. Meanwhile, autistic people spend less time on major states but more time on minor states. In addition, the unstable transient states and imbalanced activation proportion of brain networks are correlated with the social deficits. Although this work is limited by that single scanning data of only involving male participants with normal intelligence, it provides new transient aspect for atypical brain function in autistic people. eng.

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