1. Albert P, Romski M, Sevcik RA, Morris RD. Patterns of Cognition, Communication, and Adaptive Behavior in Children With Developmental Disabilities. American journal on intellectual and developmental disabilities. 2021; 126(4): 324-40.

Young children with developmental disabilities (DD) exhibit a range of strengths and weaknesses in cognitive, language, and adaptive skills. Identifying individual patterns of abilities across these domains is important for informing interventions. This study examines how 129 toddlers with significant developmental delays and less than 10 spoken words perform across different developmental domains and assessment methods (i.e., caregiver report and clinician-administered tests). Children exhibited statistically and clinically meaningful strengths and weaknesses across developmental domains, which may have important implications for differential interventions. Caregiver-reported and clinician-rated measures of cognition, language and adaptive functioning were highly related. However, the relation between caregiver report and clinician ratings was weaker for a subgroup of children with relatively more limited expressive language compared to other children in the sample.

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2. Boublil M, Plantade A. [Why Asperger syndrome disappears?]. La Revue du praticien. 2021; 71(3): 251-3.

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3. Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. The New England journal of medicine. 2021; 384(25): 2406-17.

BACKGROUND: Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy has been associated with a range of complex human diseases, yet congenital autophagy disorders are rare. METHODS: We performed a genetic, clinical, and neuroimaging analysis involving five families. Mechanistic investigations were conducted with the use of patient-derived fibroblasts, skeletal muscle-biopsy specimens, mouse embryonic fibroblasts, and yeast. RESULTS: We found deleterious, recessive variants in human ATG7, a core autophagy-related gene encoding a protein that is indispensable to classical degradative autophagy. Twelve patients from five families with distinct ATG7 variants had complex neurodevelopmental disorders with brain, muscle, and endocrine involvement. Patients had abnormalities of the cerebellum and corpus callosum and various degrees of facial dysmorphism. These patients have survived with impaired autophagic flux arising from a diminishment or absence of ATG7 protein. Although autophagic sequestration was markedly reduced, evidence of basal autophagy was readily identified in fibroblasts and skeletal muscle with loss of ATG7. Complementation of different model systems by deleterious ATG7 variants resulted in poor or absent autophagic function as compared with the reintroduction of wild-type ATG7. CONCLUSIONS: We identified several patients with a neurodevelopmental disorder who have survived with a severe loss or complete absence of ATG7, an essential effector enzyme for autophagy without a known functional paralogue. (Funded by the Wellcome Centre for Mitochondrial Research and others.).

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4. Gonçalves LF, Paiva KM, Patatt FSA, Stolz JV, Haas P. Association between autism spectrum disorder and changes in the central auditory processing in children. Revista da Associacao Medica Brasileira (1992). 2021; 67(1): 156-62.

OBJECTIVE: To verify the scientific evidence on the association between Autistic Spectrum Disorder and Central Auditory Processing Disorder in children, aiming to answer the following research question: What is the association between Autistic Spectrum and Alteration of Auditory Processing in Children? METHODS: Studies were chosen through the combination based on the Medical Subject Heading Terms (MeSH): [(auditory processing) and (children) and (autism) and (neurological disorders)]. The MEDLINE (PubMed), LILACS, and SciELO databases were used. The analyzed papers covered a ten-year period, from 2010 to 2020. We selected descriptive, cross-sectional, cohort, and case studies. We evaluated the quality of the papers, which had a minimum score of six in the modified scale of the literature. RESULTS: 126 papers were retrieved after the exclusion phase, and 17 of them followed the inclusion criteria. Only two papers answered the guiding question with audiological results. CONCLUSIONS: Patients diagnosed with autistic spectrum disorder may have disturbance central auditory processing, considering that changes were found both in absolute and interpeak latencies in the brainstem evoked response audiometry, as well as in latency and laterality of the N1c wave amplitude. In addition, there were changes in the assessment behavioral auditory processing. Thus, disturbance central auditory processing is common in children with autistic spectrum disorder.

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5. Hosokawa R, Kawabe K, Nakachi K, Yoshino A, Horiuchi F, Ueno SI. Behavioral Affect in Children with Autism Spectrum Disorder during School Closures Due to the COVID-19 Pandemic in Japan: A Case-Controlled Study. Developmental neuropsychology. 2021: 1-10.

Children with autism spectrum disorder (ASD) could experience more stress due to the changes consequent to school closures because of the coronavirus disease 2019 (COVID-19) pandemic. This study investigated differences in behavioral affect between children with ASD and typically developing children (TD). We conducted an online survey with mothers. The data of 84 children with ASD and 361 TD children aged 6 to 18 years were analyzed. Children with ASD were more frustrated due to the changes in their schedule and engaged more in restricted and repetitive behavior. Children with ASD had different types of behavioral affect compared to TD.

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6. Janouschek H, Chase HW, Sharkey RJ, Peterson ZJ, Camilleri JA, Abel T, Eickhoff SB, Nickl-Jockschat T. The functional neural architecture of dysfunctional reward processing in autism. NeuroImage Clinical. 2021; 31: 102700.

Functional imaging studies have found differential neural activation patterns during reward-paradigms in patients with autism spectrum disorder (ASD) compared to neurotypical controls. However, publications report conflicting results on the directionality and location of these aberrant activations. We here quantitatively summarized relevant fMRI papers in the field using the anatomical likelihood estimation (ALE) algorithm. Patients with ASD consistently showed hypoactivations in the striatum across studies, mainly in the right putamen and accumbens. These regions are functionally involved in the processing of rewards and are enrolled in extensive neural networks involving limbic, cortical, thalamic and mesencephalic regions. The striatal hypo-activations found in our ALE meta-analysis, which pooled over contrasts derived from the included studies on reward-processing in ASD, highlight the role of the striatum as a key neural correlate of impaired reward processing in autism. These changes were present for studies using social and non-social stimuli alike. The involvement of these regions in extensive networks associated with the processing of both positive and negative emotion alike might hint at broader impairments of emotion processing in the disorder.

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7. McCracken JT, Anagnostou E, Arango C, Dawson G, Farchione T, Mantua V, McPartland J, Murphy D, Pandina G, Veenstra-VanderWeele J. Drug development for Autism Spectrum Disorder (ASD): Progress, challenges, and future directions. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2021; 48: 3-31.

In 2017, facing lack of progress and failures encountered in targeted drug development for Autism Spectrum Disorder (ASD) and related neurodevelopmental disorders, the ISCTM with the ECNP created the ASD Working Group charged to identify barriers to progress and recommending research strategies for the field to gain traction. Working Group international academic, regulatory and industry representatives held multiple in-person meetings, teleconferences, and subgroup communications to gather a wide range of perspectives on lessons learned from extant studies, current challenges, and paths for fundamental advances in ASD therapeutics. This overview delineates the barriers identified, and outlines major goals for next generation biomedical intervention development in ASD. Current challenges for ASD research are many: heterogeneity, lack of validated biomarkers, need for improved endpoints, prioritizing molecular targets, comorbidities, and more. The Working Group emphasized cautious but unwavering optimism for therapeutic progress for ASD core features given advances in the basic neuroscience of ASD and related disorders. Leveraging genetic data, intermediate phenotypes, digital phenotyping, big database discovery, refined endpoints, and earlier intervention, the prospects for breakthrough treatments are substantial. Recommendations include new priorities for expanded research funding to overcome challenges in translational clinical ASD therapeutic research.

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8. Migó M, Guillory SB, McLaughlin CS, Isenstein EL, Grosman HE, Thakkar KN, Castellanos FX, Foss-Feig JH. Investigating Motor Preparation in Autism Spectrum Disorder With and Without Attention Deficit/Hyperactivity Disorder. Journal of autism and developmental disorders. 2021.

This study investigated motor preparation and action-consequence prediction using the lateralized readiness potential (LRP). Motor impairments are common in autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), which commonly co-occur. Alterations in predictive processes may impact motor planning. Whether motor planning deficits are characteristic of ASD broadly or magnified in the context of co-morbid ADHD is unclear. ASD children with (ASD + ADHD; n = 12) and without (ASD - ADHD; n = 9) comorbid ADHD and typical controls (n = 29) performed voluntary motor actions that either did or did not result in auditory consequences. ASD - ADHD children demonstrated LRP enhancement when their action produced an effect while ASD + ADHD children had attenuated responses regardless of action-effect pairings. Findings suggest influence of ADHD comorbidity on motor preparation and prediction in ASD.

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9. Moon CJ, Kwon TH, Lee KS, Lee HS. Recurrent neonatal sepsis and progressive white matter injury in a premature newborn culture-positive for group B Streptococcus: A case report. Medicine. 2021; 100(25): e26387.

RATIONALE: Group B Streptococcus (GBS) remains a principal pathogen causing neonatal sepsis and meningitis, particularly in premature infants with relatively insufficient immunity. Recurrence may occur uncommonly, largely associated with subclinical mucosal persistence or repetitive exposure to exogenous sources. White matter injury (WMI) including cystic periventricular leukomalacia (PVL) has been associated with intrauterine infection/inflammation, and neonatal infection as a more significant predictor including postnatal sepsis and recurrent infection, even without microbial neuroinvasion. Furthermore, clinical and experimental evidence of WMI by some bacteria other than GBS without central nervous system invasion has been reported. However, there is little evidence of WMI associated with neonatal GBS sepsis in the absence of meningitis in the literature. PATIENT CONCERNS: A newborn at 30+4 weeks’ gestation with low birthweight presented with 2 episodes (with a 13-day interval with no antibiotic therapy) of neonatal sepsis culture-proven for GBS with early-onset presentation after clinical chorioamnionitis via vertical GBS transmission and the associated conditions including prematurity-related neonatal immunodeficiency and persistent mucosal GBS carriage after the first antibiotic treatment. The perinatal GBS infection was complicated by progressive WMI presenting with ventriculomegaly and cystic PVL without a definite evidence of meningitis, intraventricular hemorrhage, and documented cerebral hypoxia or hypoperfusion conditions including septic shock. DIAGNOSES: Recurrent group B streptococcal sepsis and cystic PVL with ventriculomegaly. INTERVENTIONS: Two episodes of GBS sepsis were treated with 15-day parenteral antibiotic therapy, respectively. OUTCOMES: Resolution of the recurrent GBS sepsis without further relapses, however, complicated by WMI and subsequent about 6 months delay in motor development at 12 months’ corrected age. LESSONS: This case suggests WMI associated with GBS bacteremia without central nervous system entry by viable GBS and also shows that in premature infants, intrauterine GBS infection with no interventions may lead to extensive and persistent GBS colonization, early-onset and recurrent GBS disease, and WMI. Postnatal as well as intrauterine infection/inflammation controls with maternal prophylaxis may be pivotal for prevention and limiting the magnitude of neurologic injury.

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10. Popow C, Ohmann S, Plener P. Practitioner’s review: medication for children and adolescents with autism spectrum disorder (ASD) and comorbid conditions. Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater. 2021; 35(3): 113-34.

Alleviating the multiple problems of children with autism spectrum disorder (ASD) and its comorbid conditions presents major challenges for the affected children, parents, and therapists. Because of a complex psychopathology, structured therapy and parent training are not always sufficient, especially for those patients with intellectual disability (ID) and multiple comorbidities. Moreover, structured therapy is not available for a large number of patients, and pharmacological support is often needed, especially in those children with additional attention deficit/hyperactivity and oppositional defiant, conduct, and sleep disorders.

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11. Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Bergonzini P, Pisani F, Fusco C. Further delineation of PIGB-related early infantile epileptic encephalopathy. European journal of medical genetics. 2021; 64(10): 104268.

Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Hypomyelination was documented on brain MRI. Whole-exome sequencing (WES) disclosed the likely pathogenic biallelic PIGB NM_004855.4: c.463G > C, p.(Asp155His) missense variant. In our patient, while other characteristic clinical, neuroimaging and laboratory findings (as described in the first research paper) were present, seizures were not a major clinical issue, thus contributing to our knowledge on this ultra-rare disorder.

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12. Shin KO, Crumrine DA, Kim S, Lee Y, Kim B, Abuabara K, Park C, Uchida Y, Wakefield JS, Meyer JM, Jeong S, Park BD, Park K, Elias PM. Phenotypic overlap between atopic dermatitis and autism. BMC neuroscience. 2021; 22(1): 43.

BACKGROUND: Autism, a childhood behavioral disorder, belongs to a large suite of diseases, collectively referred to as autism spectrum disorders (ASD). Though multifactorial in etiology, approximately 10% of ASD are associated with atopic dermatitis (AD). Moreover, ASD prevalence increases further as AD severity worsens, though these disorders share no common causative mutations. We assessed here the link between these two disorders in the standard, valproic acid mouse model of ASD. In prior studies, there was no evidence of skin involvement, but we hypothesized that cutaneous involvement could be detected in experiments conducted in BALB/c mice. BALB/c is an albino, laboratory-bred strain of the house mouse and is among the most widely used inbred strains used in animal experimentation. METHODS: We performed our studies in valproic acid (VPA)-treated BALB/c hairless mice, a standard mouse model of ASD. Mid-trimester pregnant mice received a single intraperitoneal injection of either valproic acid sodium salt dissolved in saline or saline alone on embryonic day 12.5 and were housed individually until postnatal day 21. Only the brain and epidermis appeared to be affected, while other tissues remain unchanged. At various postnatal time points, brain, skin and blood samples were obtained for histology and for quantitation of tissue sphingolipid content and cytokine levels. RESULTS: AD-like changes in ceramide content occurred by day one postpartum in both VPA-treated mouse skin and brain. The temporal co-emergence of AD and ASD, and the AD phenotype-dependent increase in ASD prevalence correlated with early appearance of cytokine markers (i.e., interleukin [IL]-4, 5, and 13), as well as mast cells in skin and brain. The high levels of interferon (IFN)γ not only in skin, but also in brain likely account for a significant decline in esterified very-long-chain N-acyl fatty acids in brain ceramides, again mimicking known IFNγ-induced changes in AD. CONCLUSION: Baseline involvement of both AD and ASD could reflect concurrent neuro- and epidermal toxicity, possibly because both epidermis and neural tissues originate from the embryonic neuroectoderm. These studies illuminate the shared susceptibility of the brain and epidermis to a known neurotoxin, suggesting that the atopic diathesis could be extended to include ASD.

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13. Stantić M, Ichijo E, Catmur C, Bird G. Face memory and face perception in autism. Autism : the international journal of research and practice. 2022; 26(1): 276-80.

It is well known that some people with autism have difficulties recognizing faces. It is generally thought that this is not because autistic individuals cannot perceive faces, but because autistic individuals have greater problems than people without autism in remembering faces. Here, we worked with a group of autistic adults and a group of non-autistic adults to test their ability to perceive and remember faces. We also asked each person to report any difficulties that they have with recognizing faces in everyday life. We find that, as a group, people with autism have difficulties with both remembering and perceiving faces, and report more problems recognizing faces in everyday life. However, it is worth noting that we observed a wide range of scores in the group of people with autism, with some autistic participants scoring as well as the group of people without autism.

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