1. Akanaeme IN, Ekwealor FN, Ifeluni CN, Onyishi CN, Obikwelu CL, Ohia NC, Obayi LN, Nwaoga CT, Okafor AE, Victor-Aigbodion V, Ejiofor TE, Afiaenyi IC, Ekomaru CI, Dike IC. Managing job stress among teachers of children with autism spectrum disorders: A randomized controlled trial of cognitive behavioral therapy with yoga. Medicine. 2021; 100(46): e27312.

BACKGROUND: Job-related stress undermines occupational, personal, and organizational outcomes. Stress symptoms are common among teachers of children with autism spectrum disorders and affect the academic progress of the children. This study investigated the effectiveness of yoga-based cognitive behavioral therapy in reducing occupational stress among teachers of children with autism in Lagos states, Nigeria. METHODS: The current study adopted a group-randomized waitlist control (WLC) trial design with pre-test, posttest, and follow-up assessments. Participants included 58 teachers of children with autism in public and private special schools in Lagos state. Participants were randomly assigned to combined cognitive behavioral therapy and yoga (Y-CBT) (N = 29) and WLC (N = 29) groups. The Y-CBT group participated in a 2 hours Y-CBT program weekly for 12 weeks. Three instruments – Demographic Questionnaire, Single-Item Stress Questionnaire, and Teachers’ Stress Inventory (TSI) were used to collect data. Data were collected at baseline; posttest and follow-up evaluations. Data were analyzed using means, standard deviations, t test statistics, repeated measures analysis of variance, and bar charts. RESULTS: Results revealed that all dimensions of job stress (perception of stress sources, stress manifestation, and total TSI scores) reduced significantly at posttest and follow up assessments among the Y-CBT group, compared to the WLC. CONCLUSION: It was concluded that Y-CBT modalities could help to minimize the perception of stress sources and stress manifestation as well as total TSI scores among teachers of children with autism spectrum disorders.

Lien vers le texte intégral (Open Access ou abonnement)

2. Boltri M, Sapuppo W. Anorexia Nervosa and Autism Spectrum Disorder: A Systematic Review. Psychiatry research. 2021; 306: 114271.

BACKGROUND: Recent research has shown a growing interest in exploring the relationship between anorexia nervosa (AN) and autism spectrum disorder (ASD). Both conditions seem to share areas of cognitive, social and behavioural impairment, leading to relevant implications on treatment, especially when they are in comorbidity. This literature review aims to synthesise the latest studies on this topic to investigate the co-occurrence of AN and ASD, suggest future research directions and consider implications for treatment. METHOD: Records were systematically (PRISMA guidelines) identified through PubMed, EBSCOhost, Scopus and Web of Science searching. RESULTS: Thirteen studies met the eligibility criteria and were therefore included in the review. Results seem to confirm an overrepresentation of ASD symptoms in AN. Only few studies investigated the AN-ASD comorbidity in young people and report slightly lower rates than those conducted with adults. CONCLUSIONS: Analysed studies suggest that while the comorbidity seems to exacerbate the severity of the condition, autistic traits appear to be rather stable over time and not related to body weight. Thus, future longitudinal studies and gender- specific assessment tools can help clarify the relationship between the two disorders, examine the onset of ASD symptoms and develop structured guidelines for treatment.

Lien vers le texte intégral (Open Access ou abonnement)

3. Chorin O, Chowers G, Agbariah R, Karklinsky S, Barel O, Bar-Joseph I, Reznik-Wolf H, Shamash J, Pode-Shakked B, Jacobson JM, Huna-Baron R, Redler Y, Tirosh I, Vivante A, Raas-Rothschild A. Broadening the phenotype of LRRK1 mutations – Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity. European journal of medical genetics. 2022; 65(1): 104383.

Osteosclerotic metaphyseal dysplasia is a rare disorder which features osteosclerosis involving long bones, vertebrae, ribs, clavicles and the iliac crests. Additional features which have variably been reported include developmental delay, short stature, hypotonia and seizures. The disease is caused by pathogenic variants in the LRRK1 gene, and inherited in an autosomal recessive manner. We report three siblings (ages 14 years, 11.5 years and 0.9 years), born to consanguineous parents of Arab-Muslim descent, harboring a homozygous pathogenic variant in the LRRK1 gene (Chr15:101068759 AGGGGCT>A, c.5965_5970del TGGGGC, p.Trp1989Gly1990del). The patients displayed variable degrees of skeletal dysplasia, with the oldest sibling most severely affected, and the youngest infant with minor skeletal involvement. Two of the siblings exhibited normal neurological development, while the youngest sibling exhibited global developmental delay. None of the siblings had seizures; however, two of them exhibited nystagmus. Optic nerve involvement has not previously been reported to be part of the clinical spectrum of this disease. The degree of optic nerve involvement did not correlate with the degree of skeletal involvement. This indicates both intra-familial variable expressivity along with a broadening of the spectrum of LRRK1-associated disease. These findings warrant reconsideration of therapeutic strategies, including the possibility of hematopoietic stem cell transplantation (HSCT) as is performed in cases of malignant and intermediate forms of osteopetrosis.

Lien vers le texte intégral (Open Access ou abonnement)

4. Hickey EJ, Feinberg E, Kuhn J, Cabral HJ, Broder-Fingert S. Family Impact During the Time Between Autism Screening and Definitive Diagnosis. Journal of autism and developmental disorders. 2021.

Over the past 10 years, identification of Autism Spectrum Disorder (ASD) risk has dramatically increased due to the wide-spread implementation of screening programs; yet, there is limited understanding about parent perceptions and experiences during the time period when risk is identified, but prior to receiving a formal diagnosis-a period that can last months to years given the long wait-lists for formal ASD evaluations. The current study aimed to examine parent perceptions of family impact (i.e., the impact their child’s behaviors have on the family) between the time of risk-identification and formal diagnosis among 277 children identified as at-risk for ASD through screening positive in primary care. We aimed to compare family impact among those whose child met diagnostic criteria for ASD and those who did not. Parents of children who received a non-ASD diagnosis reported a higher baseline level of family impact (F[1, 274] = 5.82, p = .017); however, perceived difficult child behavior was a stronger predictor of family impact (t[6] = 13.11, p < .001) than later diagnostic group (t[6] = - 2.10, p = .037), and child functioning did not predict family impact (t[6] = -0.31, p = .76). These results suggest that in this population, perceived difficult child behavior is a stronger predictor of family impact than later diagnostic category and should be considered an important factor in family support.

Lien vers le texte intégral (Open Access ou abonnement)

5. Maldonado-Ruiz R, Trujillo-Villarreal LA, Montalvo-Martínez L, Mercado-Gómez OF, Arriaga-Ávila V, Garza-Ocañas L, Ortiz-López R, Garza-Villarreal EA, Guevara-Guzmán R, Camacho-Morales A. MCP-1 Signaling Disrupts Social Behavior by Modulating Brain Volumetric Changes and Microglia Morphology. Molecular neurobiology. 2022; 59(2): 932-49.

Autism spectrum disorder (ASD) is a disease characterized by reduced social interaction and stereotypic behaviors and related to macroscopic volumetric changes in cerebellar and somatosensory cortices (SPP). Epidemiological and preclinical models have confirmed that a proinflammatory profile during fetal development increases ASD susceptibility after birth. Here, we aimed to globally identify the effect of maternal exposure to high-energy dense diets, which we refer to as cafeteria diet (CAF) on peripheral and central proinflammatory profiles, microglia reactivity, and volumetric brain changes related to assisting defective social interaction in the mice offspring. We found a sex-dependent effect of maternal exposure to CAF diet or inoculation of the dsARN mimetic Poly (I:C) on peripheral proinflammatory and social interaction in the offspring. Notably, maternal exposure to CAF diet impairs social interaction and favors an increase in anxiety in male but not female offspring. Also, CAF diet exposure or Poly (I:C) inoculation during fetal programming promote peripheral proinflammatory profile in the ASD-diagnosed male but not in females. Selectively, we found a robust accumulation of the monocyte chemoattractant protein-1 (MCP-1) in plasma of ASD-diagnosed males exposed to CAF during fetal development. Biological assessment of MCP-1 signaling in brain confirms that systemic injection of MCP-1-neutralizing antibody reestablished social interaction and blocked anxiety, accompanied by a reduction in cerebellar lobule X (CbX) volume and an increase volume of the primary somatosensory (SSP) cortex in male offspring. These data highlight the contribution of diet-dependent MCP-1 signaling on volumetric brain changes and microglia morphology promoting ASD-like behavior in male mice.

Lien vers le texte intégral (Open Access ou abonnement)

6. Migliorelli C, Medina-Rivera I, Bachiller A, Tost A, Alonso JF, López-Sala A, Armstrong J, O’Callahan MDM, Pineda M, Mañanas MA, Romero S, García-Cazorla Á. Cognitive stimulation has potential for brain activation in individuals with Rett syndrome. Journal of intellectual disability research : JIDR. 2022; 66(3): 213-24.

BACKGROUND: Knowledge regarding neuropsychological training in Rett syndrome (RS) is scarce. The aim of this study was to assess the outcome and the duration of the effect of cognitive stimulation on topographic electroencephalography (EEG) data in RS. METHODS: Twenty female children diagnosed with RS were included in the analysis. Girls with RS conducted a cognitive task using an eye-tracker designed to evaluate access and choice skills. EEG data were acquired during the experimental procedure including two 10-min baseline stages before and after the task. Topographical changes of several EEG spectral markers including absolute and relative powers, Brain Symmetry Index and entropy were assessed. RESULTS: Topographic significance probability maps suggested statistical decreases on delta activity and increases on beta rhythm associated with the cognitive task. Entropy increased during and after the task, likely related to more complex brain activity. A significant positive interaction was obtained between Brain Symmetry Index and age showing that the improvement of interhemispheric symmetry was higher in younger girls (5-10 years). CONCLUSIONS: According to our findings, significant alterations of brain rhythms were observed during and after cognitive stimulation, suggesting that cognitive stimulation may have effects on brain activity beyond the stimulation period. Finally, our promising results also showed an increase brain symmetry that was especially relevant for the younger group. This could suggest an interaction of the eye-tracking cognitive task; however, further studies in this field are needed to assess the relation between brain asymmetries and age.

Lien vers le texte intégral (Open Access ou abonnement)

7. Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Human genetics. 2022; 141(1): 81-99.

The uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5′-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transporters are involved in transporting various solutes across the blood-brain barrier, blood-cerebrospinal fluid barrier, astrocytes, neurons, and other brain cell types including oligodendrocytes and microglial cells. SLCs play an important role in maintaining normal brain function. Hence, mutations in the genes that encode SLC transporters can cause a variety of neurological disorders. We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC27A4, SLC45A1, SLC46A1, and SLC52A3. Eight patients harbored pathogenic or likely pathogenic mutations (SLC5A1, SLC9A6, SLC12A6, SLC16A1, SLC19A3, and SLC52A3), and 12 patients were found to have variants of unknown clinical significance (VOUS); these variants occurred in 11 genes (SLC1A2, SLC2A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SLC13A5, SLC25A12, SLC27A4, and SLC45A1). Five patients were excluded as they were carriers. In the remaining 20 patients with SLC gene variants, we identified 16 possible distinct neurological disorders. Based on the clinical presentation, we categorized them into genes causing intellectual delay (ID) or autism spectrum disorder (ASD), those causing epilepsy, those causing vitamin-related disorders, and those causing other neurological diseases. Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. The present study examines the prevalence of SLC gene mutations in our cohort of children with epilepsy and other neurological disorders. It highlights the diverse phenotypes associated with mutations in this large family of SLC transporter proteins, and an opportunity for personalized genomics and personalized therapeutics.

Lien vers le texte intégral (Open Access ou abonnement)

8. Mirenda P, Smith V, Colozzo P, Vismara LA, Ungar WJ, Kalynchuk K. Training Coaches in Community Agencies to Support Parents of Children with Suspected Autism: Outcomes, Facilitators, and Barriers. Journal of autism and developmental disorders. 2021: 1-18.

This study evaluated the fidelity and effectiveness of a parent coach training program for toddlers at risk for autism spectrum disorder and identified factors required for successful training implementation under real-world conditions. Training addressed four tiers of clinical competence and was delivered to early intervention providers across 23 partner agencies in a large Canadian province. Results indicated that mean trainee fidelity scores were within the range reported in previous community-based training studies but there was considerable variability across trainees. Implementation facilitators included agency learning climate, leadership support, and trainee readiness for change. Implementation barriers included time/caseload demands and challenges related to technology learning and infrastructure. Results have implications for parent coach training in community settings.

Lien vers le texte intégral (Open Access ou abonnement)

9. Montenegro MC, Abdul-Chani M, Valdez D, Rosoli A, Garrido G, Cukier S, Paula CS, Garcia R, Rattazzi A, Montiel-Nava C. Perceived Stigma and Barriers to Accessing Services: Experience of Caregivers of Autistic Children Residing in Latin America. Research in developmental disabilities. 2022; 120: 104123.

BACKGROUND: Relationship of perceived stigma and barrier to service access among Latino populations with autism in cross-cultural settings has not been fully explored. AIM: The present study explored the relationship between difficulty accessing services and perceived stigma among caregivers of autistic children in Latin America. Additionally, explore contextual factors that better explain the perception of stigma when accessing services. METHODS AND PROCEDURE: Approximately 2500 caregivers from six Latin American countries completed an online survey. Descriptive inferential analysis and a pointbiserial correlation were conducted to understand direct relationship between difficulty accessing services and perceived stigma and to test their relationship. Added contextual factors contributing to this relationship were examined through a binary logistic regression. OUTCOMES AND RESULTS: Barriers to accessing services predicted stigma. Contextual factors such as country of residence, frustration experienced by caregivers, gender of autistic child and challenging behaviours had higher odds of experiencing some form of perceived stigma. CONCLUSIONS AND IMPLICATIONS: These results suggest experiences with stigma to be heavily influenced by environmental factors such cultural differences which in combination with contextual factors could further increase the likelihood of perceiving stigma. When observing stigma within a social-cognitive approach, it is possible that a strong-held adherence to cultural norms, in addition to negative experiences (e.g., frustration) when accessing services, could be influencing caregivers perceived stigma.

Lien vers le texte intégral (Open Access ou abonnement)

10. Myers AJ, Cleveland E, Whitby PJS, Boykin AA, Burnette K, Holmes R, Ezike N. Analysis of a Statewide Early Intervention Program for Young Children with ASD. Journal of autism and developmental disorders. 2021.

We evaluated the effectiveness of a statewide Medicaid program providing in-home Early Intensive Behavioral Intervention services to young children with Autism Spectrum Disorder living in a rural southern state. Program effectiveness was assessed via the Assessment of Basic Language and Learning Skills-Revised (ABLLS-R). A multi-level growth model was used to show significant variation among children’s initial ABLLS-R scores and their growth trajectories. Hispanic children tended to have lower initial scores but demonstrated similar growth compared to their non-Hispanic peers. Children who were older at initial start in the program appeared to have higher initial composite scores and higher growth trajectories. Children in more populous counties had higher initial scores but grew at similar rates to children in more rural counties.

Lien vers le texte intégral (Open Access ou abonnement)

11. Pedersen JH, Skytthe A, Bybjerg-Grauholm J, Kucukyildiz AS, Skov L, Debes NM, Tümer Z. Concordance and comorbidities among monozygotic twins with tic disorders. Journal of psychiatric research. 2022; 146: 297-303.

Gilles de la Tourette Syndrome (GTS) is a multifactorial neurodevelopmental disorder characterized by tics and multiple comorbidities. The pathophysiology is not yet fully understood, but both environmental and genetic risk factors seem to be involved. Twin studies provide important knowledge on genetic factors. We assessed the concordance of GTS and chronic tic disorders (CTD) in monozygotic (MZ) twins, and examined tic severity, symptoms of obsessive-compulsive disorder (OCD), attention deficit/hyperactivity disorder and autism spectrum disorder. Twin pairs, where at least one twin was diagnosed with any tic disorder, were identified through Danish Twin Registry, Psychiatric Central Registry, Danish National Patient Registry and National Tourette Clinic, Copenhagen University Hospital, Herlev. Zygosity was tested with single-nucleotide polymorphism (SNP) genotyping and clinical assessment was done with validated tools. 14 MZ twin pairs were included: five were discordant. Seven twin pairs were concordant for GTS, and for two pairs one twin had GTS and the other CTD. Among the twins with CTD or GTS, 50% had at least one comorbidity, which is higher than in background populations. The GTS + OCD-phenotype was significantly more frequent among GTS-concordant than among discordant twins. No statistically significant differences were found between the GTS-concordant and discordant twin pairs regarding tic severity or comorbidities. Thorough clinical assessment and SNP-based genotyping are important when conducting clinical twin studies. We found high concordance of GTS and CTD, which supports the notion that both disorders have common genetic risk factors. Further studies with larger cohorts including dizygotic twins are warranted for more conclusive results.

Lien vers le texte intégral (Open Access ou abonnement)

12. Schlink A, Williams J, Pizzano M, Gulsrud A, Kasari C. Parenting stress in caregiver-mediated interventions for toddlers with autism: An application of quantile regression mixed models. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 353-65.

Traditional longitudinal modeling approaches require normally distributed data and do not account for sample heterogeneity. Parenting stress, in particular, can be difficult to model across time without transforming the data as it is usually high for caregivers of children with ASD. This study used novel linear quantile mixed models (LQMMs) to model non-normal parent stress scores across two caregiver-mediated interventions involving toddlers with ASD. The sample included 86 caregiver-child dyads who were randomized to either a parent-only psychoeducational intervention or hands-on parent training in a naturalistic developmental intervention. Child and parent-related domains of the Parenting Stress Index (PSI) were the primary outcomes in this study. The PSI was collected at entry, 10-week exit, 3-month follow-up, and 6-month follow-up periods. Separate LQMMs were used to model five specific quantiles ( τ = 0.1, 0.25, 0.5, 0.75, and 0.9) of the two PSI domains across the complete intervention timeline. These five quantiles effectively modeled the entire conditional distribution of parenting stress scores. The LQMMs indicated that child-related parenting stress decreased across all quantiles within both interventions, with no difference in the rate of parenting stress change between the intervention groups. For parent-related parenting stress, the effect of intervention depended on the group’s stress level; some parents increased their perceived stress within the hands-on intervention at the 3-month follow-up. Overall, this study demonstrated that the use of LQMMs yielded additional information, beyond traditional longitudinal models, regarding the relationship between parenting stress within two caregiver-mediated intervention protocols. This study also discussed the methodological contributions and potential future applications of LQMMs. LAY SUMMARY: This study used a newer longitudinal modeling technique to examine how parenting stress changed across two caregiver-mediated interventions for toddlers with ASD. Results showed that certain parents in the JASPER condition might require additional support as they exit the study and enter into their first follow-up period. It was also determined that this new modeling technique could be a valuable tool to analyze highly variable data often present in ASD intervention studies.

Lien vers le texte intégral (Open Access ou abonnement)

13. Shulman LH, Yoffe J. 50 Years Ago in TheJournalofPediatrics: Developmental Screening: The Value of Direct Observation of Skills. The Journal of pediatrics. 2021; 239: 73.

Lien vers le texte intégral (Open Access ou abonnement)

14. Warburton TM, Kandiah J, Jacombs A, FitzGerald SCK. Severe acquired megacolon in fragile X syndrome. ANZ journal of surgery. 2021.

Lien vers le texte intégral (Open Access ou abonnement)

15. Zhao Y, Yang L, Gong G, Cao Q, Liu J. Identify aberrant white matter microstructure in ASD, ADHD and other neurodevelopmental disorders: A meta-analysis of diffusion tensor imaging studies. Progress in neuro-psychopharmacology & biological psychiatry. 2022; 113: 110477.

BACKGROUND: Neurodevelopmental disorders (NDDs) usually present overlapping symptoms. Abnormal white matter (WM) microstructure has been found in these disorders. Identification of common and unique neural abnormalities across NDDs could provide further insight into the underlying pathophysiological mechanisms. METHODS: We performed a voxel-based meta-analysis of whole-brain diffusion tensor imaging (DTI) studies in autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD) and other NDDs. A systematic literature search was conducted through March 2020 to identify studies that compared measures of WM microstructure between patients with NDDs and neurotypical controls. Peak voxel coordinates were meta-analyzed via anisotropic effect size-signed differential mapping (AES-SDM) as well as activation likelihood estimation (ALE). RESULTS: Our final sample included a total of 4137 subjects from 66 studies across five NDDs. Fractional anisotropy (FA) reductions were found in the splenium of the CC in ADHD, and the genu and splenium of CC in ASD. And mean diffusivity (MD) increases were shown in posterior thalamic radiation in ASD. No consistent abnormalities were detected in specific learning disorder, motor disorder or communication disorder. Significant differences between child/adolescent and adult patients were found within the CC across NDDs, reflective of aberrant neurodevelopmental processes in NDDs. CONCLUSIONS: The current study demonstrated atypical WM patterns in ASD, ADHD and other NDDs. Microstructural abnormalities in the splenium of the CC were possibly shared among ASD and ADHD.

Lien vers le texte intégral (Open Access ou abonnement)