1. Craig F, Crippa A, Ruggiero M, Rizzato V, Russo L, Fanizza I, Trabacca A. Characterization of Autism Spectrum Disorder (ASD) subtypes based on the relationship between motor skills and social communication abilities. Human movement science. 2021; 77: 102802.

Motor abnormalities are generally observed in autism spectrum disorder (ASD), and motor difficulties are certainly evident during the early years of life and may thus precede social-communication impairments. The main aim of the present study was to examine ASD subtypes based on the relationship between motor skills and social communication abilities. Motor skills and social communication abilities were evaluated through the Movement Assessment Battery for Children-Second Edition, the Autism Diagnostic Observation Schedule-Second Version and the Psychoeducational Profile-Third Edition. In addition, social communication abilities were classified according to the Autism Classification System of Functioning: Social Communication-ACSF:SC criteria. We found that children with ASD presented poorer motor skills than their TD peers, and motor impairments correlated with poorer social communication abilities in children with ASD. In addition, children with lower social and communication functioning showed a more prominent impairment in manual dexterity and fine motor skills than children with better social and communication functioning. In conclusion, we suggest that stratifying children with ASD based on motor and social endophenotypes may be useful to understand the neurobiological mechanisms of ASD and lead to new types of treatment.

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2. Eilers LF, Gowda ST, Gowda S, Lahiri S, Aggarwal V, Stapleton GE, Gillespie MJ, Qureshi AM. Mullins-Sheath Facilitated Delivery of Gore Cardioform ASD Occluder Devices for Closure of Large or Challenging Secundum Atrial Septal Defects. The Journal of invasive cardiology. 2021; 33(6): E425-e30.

OBJECTIVES: To describe a deployment technique of the Gore Cardioform atrial septal defect (ASD) occluder (W.L. Gore and Associates) for large secundum ASDs and ASDs with challenging anatomy. BACKGROUND: The Gore Cardioform ASD occluder has recently been approved for closure of secundum ASDs; however, there are limitations to its delivery system. METHODS: A retrospective study was conducted on the use of a Mullins sheath (Cook Medical) to facilitate Gore Cardioform ASD occluder delivery for secundum ASD closure in the cardiac catheterization laboratory from June, 2017 to December, 2019 at Texas Children’s Hospital/Baylor College of Medicine. RESULTS: Out of 98 patients who underwent an attempt at ASD closure using the Gore Cardioform ASD occluder, a Mullins sheath was used in 52 patients (median age, 8 years [interquartile range, 4-13 years] and weight 27.2 kg [interquartile range, 17.9-51.2 kg]), with a successful implant in 46/52 patients (88%). The Mullins sheath was primarily used to deliver large devices (>32 mm) in 38/46 successful implants (83%). There were 2 major adverse events (atrial fibrillation requiring cardioversion). At a median follow-up of 43 days (interquartile range, 1-374 days), no patient had more than a mild residual shunt. The ASD size, maximum sheath size, and device size were larger in patients in whom the Mullins sheath was used as compared with those patients in whom a Mullins sheath was not used. CONCLUSIONS: The Mullins sheath-facilitated delivery of the Gore Cardioform ASD occluder device may be a useful adjunct technique for closure of large secundum ASDs and secundum ASDs with challenging anatomy.

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3. Faisal M, Pradeep V, O’Hanrahan S. Case of paediatric catatonia precipitated by antipsychotic withdrawal in a child with autism spectrum disorder. BMJ case reports. 2021; 14(4).

A 13-year-old girl with moderate intellectual disability and autism spectrum disorder (ASD) was admitted to the paediatric high-dependency unit following an 8-week history of altered mental status and motor behaviour. Her symptoms emerged followed shortly after discontinuation of risperidone, an atypical antipsychotic previously commenced to manage disruptive behaviour associated with ASD. On physical examination, the patient presented with negativism, grimacing, automatic obedience, waxy flexibility and ambitendency. Blood tests, neuroimaging and lumbar puncture failed to reveal an acute infectious or neurological precipitant. She responded immediately to a trial of intramuscular lorazepam titrated to a total daily dose of 12 mg. This case presents challenges of accurately diagnosing and managing catatonic symptoms in adolescent patients with ASD. We also discuss the potential risk of precipitating catatonia following the discontinuation of antipsychotic treatment that has been prescribed for a prolonged duration.

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4. Gibson L, Porter M. Alcohol and Tobacco use While Breastfeeding and Risk of Autism Spectrum Disorder or Attention Deficit/Hyperactivity Disorder. Journal of autism and developmental disorders. 2022; 52(3): 1223-34.

Research has linked prenatal alcohol and tobacco use with Attention Deficit Hyperactivity Disorder (ADHD), and variably with Autism Spectrum Disorder (ASD). Lactational use has been scantly considered. This study examined whether it may alter ADHD or ASD risk. Participants were 5107 infants recruited in 2004 and assessed longitudinally for the Growing Up in Australia Study. Logistic regression did not find any associations between maternal alcohol and tobacco use while breastfeeding and ADHD or ASD diagnosis at ages 6-7 or 10-11 years. Alcohol and tobacco use during lactation may not increase ADHD or ASD risk. Abstaining from alcohol and tobacco, however, may still be the safest option. Analyses were limited by lack of alcohol timing and retrospective variables that future research should address.

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5. Godwin D, Dempsey J, Cervantes J, Smith J, Voigt R. Effectiveness of a Psychoeducational Intervention for Families of Children Awaiting a Developmental Evaluation. Health & social work. 2021; 46(2): 136-41.

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6. Ivy AS, Standridge SM. Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates. Seminars in pediatric neurology. 2021; 37: 100881.

Since the discovery of the genetic basis of Rett syndrome in 1999, our understanding has grown considerably both in the scientific and the clinical realms. In the last two decades, we have learned about the far-reaching effects of the aberrant MeCP2 protein, the growing list of involved genetic factors, and the genotype-phenotype clinical expression of common MECP2 mutations. This knowledge has led to several basic science research and clinical trials, focusing specifically on emerging treatments of Rett syndrome. As the pathophysiology behind the disease is better understood, treatments aimed at specific molecular targets will become available for clinicians to improve the life of individuals with Rett syndrome.

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7. Jellett R, Muggleton J. Implications of Applying « Clinically Significant Impairment » to Autism Assessment: Commentary on Six Problems Encountered in Clinical Practice. Journal of autism and developmental disorders. 2022; 52(3): 1412-21.

The addition of ‘clinically significant impairment’ (American Psychiatric Association, Diagnostic and statistical manual of mental disorders, Author, 2013) to the diagnostic criteria for autism in DSM-5 attempts to establish a threshold for the condition. However, the increased prominence of the neurodiversity paradigm and social model of disability runs counter to the idea that characteristics of autism are fundamentally impairing. Consequently, diagnostic criteria for autism are becoming misaligned with the contemporary views of ‘disorder’ and ‘disability’. In this commentary, we outline six clinical issues that arise from this misalignment during diagnostic assessment for autism, and the tension this creates in making diagnostic decisions. We conclude by considering ways the ‘clinically significant impairment’ criterion could be changed, and the implications this would have on clinical practice, and the concept of autism.

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8. Lozano R, Gbekie C, Siper PM, Srivastava S, Saland JM, Sethuram S, Tang L, Drapeau E, Frank Y, Buxbaum JD, Kolevzon A. FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring. Journal of neurodevelopmental disorders. 2021; 13(1): 18.

FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome.

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9. Milgramm A, Corona LL, Janicki-Menzie C, Christodulu KV. Community-based Parent Education for Caregivers of Children Newly Diagnosed with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022; 52(3): 1200-10.

Parents of children with autism spectrum disorder (ASD) frequently report high levels of stress related to the process of receiving an ASD diagnosis and navigating the intervention landscape. Parent education programs offer one approach to providing families with support, information, and resources following a child’s diagnosis. Given the heterogeneity of such programs, there have been calls within the literature for increased characterization and systematic evaluation of this type of parent-focused intervention. The present study describes the structure and content of a community-based, group-format parent education program for families of children newly diagnosed with ASD. Following program participation, parents reported reductions in parenting stress, increases in knowledge and empowerment, and high levels of satisfaction. Implications and future research directions are discussed.

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10. Payne M, Mali I, McKinnell ZE, Vangsness L, Shrestha TB, Bossmann SH, Plakke B. Increased volumes of lobule VI in a valproic acid model of autism are associated with worse set-shifting performance in male Long-Evan rats. Brain research. 2021; 1765: 147495.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a skewed sex-based diagnostic ratio. While males are at a higher risk for ASD, it is critical to understand the neurobiology of the disorder to develop better treatments for both males and females. Our prior work has demonstrated that VPA (valproic acid) treated offspring had impaired performance on an attentional set-shifting task. The current study used MRI and regions of interest analyses to measure the volumes of cerebellar subregions in VPA and controls rats that had participated in the attentional set-shifting task. VPA males had significantly more volume in lobule VI compared to male controls. VPA female rats had significantly less volume in lobules I, IV and X compared to female controls. In addition, it was revealed that decreases in volume for VPA females was associated with worse performance. Males with increases in lobule VI were also impaired on the set-shifting task. Similar volumetric differences within the cerebellum have been observed in humans with ASD, which suggests that the VPA model is capturing some of the same brain changes observed in humans with ASD, and that these changes in volume may be impacting cognition.

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11. Pop-Jordanova N, Zorcec T. Does the M-Chat-R Give Important Information for the Diagnosis of the Autism Spectrum Disorder?. Prilozi (Makedonska akademija na naukite i umetnostite Oddelenie za medicinski nauki). 2021; 42(1): 67-75.

Having in mind the rising rates of the incidence for autism worldwide, the early diagnosis of this neuro-developmental disorder is of the high priority. For that purpose, several checklists have been constructed and used. Nevertheless, there are no universal and uniform criteria for assessing and diagnosing autism, and even if there existed, not every country has the resources to manage such an assessment for diagnosis.A recently validated, revised version of the M-CHAT, the M-CHAT-Revised with Follow up (M-CHAT-R/F) has demonstrated strong psychometric properties.The aim of this article is to discuss our results obtained with M-CHAT-R applied in a sample of 131 children aged 31,9 ±9,4 months, recruited for diagnosis and treatment at the University Children’s Hospital in Skopje.Our results confirmed that for screening the use of M-CHAT-R/F is currently the very exact instrument which allows the early suspicion, but also possible follow up the symptoms of this disorder. Additionally, we showed the significant negative correlation between age and scores obtained on the checklist.

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12. Schiltz HK, McVey AJ, van Dyk IS, Adler EJ, Van Hecke AV. Brief Report: Links Between Nonconformity to Gender Norms, Autistic Features, and Internalizing Symptoms in a Non-clinical College Sample. Journal of autism and developmental disorders. 2021.

Research shows elevated gender variance among autistic people and more autistic traits among gender diverse people, each of which is related to mental health concerns. Little work has explored broad features of these presentations in a non-clinical sample. College students (n = 174) ages 18-22 years completed questionnaires assessing the broader autism phenotype (BAP), autistic features, nonconformity to gender norms, and internalizing symptoms. Those with more BAP features or autistic communication reported more nonconformity to gender norms. Higher levels of internalizing symptoms were related to more gender nonconformity, BAP, and autistic features. Gender nonconformity marginally moderated the effect of BAP on depression but not anxiety. The BAP, autistic features, and gender nonconformity are important in understanding mental well-being.

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13. Svalina MN, Guthman EM, Cea-Del Rio CA, Kushner JK, Baca SM, Restrepo D, Huntsman MM. Hyperexcitability and Loss of Feedforward Inhibition Contribute to Aberrant Plasticity in the Fmr1KO Amygdala. eNeuro. 2021; 8(3).

Fragile X syndrome (FXS) is a neurodevelopmental disorder (NDD) characterized by intellectual disability, autism spectrum disorders (ASDs), and anxiety disorders. The disruption in the function of the FMR1 gene results in a range of alterations in cellular and synaptic function. Previous studies have identified dynamic alterations in inhibitory neurotransmission in early postnatal development in the amygdala of the mouse model of FXS. However, little is known about how these changes alter microcircuit development and plasticity in the lateral amygdala (LA). Using whole-cell patch clamp electrophysiology, we demonstrate that principal neurons (PNs) in the LA exhibit hyperexcitability with a concomitant increase in the synaptic strength of excitatory synapses in the BLA. Further, reduced feed-forward inhibition appears to enhance synaptic plasticity in the FXS amygdala. These results demonstrate that plasticity is enhanced in the amygdala of the juvenile Fmr1 knock-out (KO) mouse and that E/I imbalance may underpin anxiety disorders commonly seen in FXS and ASDs.

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14. Ward J, Baykova R, Dyson B, Chew J, Schreiter ML, Beste C, Sherman M. A distinct electrophysiological signature for synaesthesia that is independent of individual differences in sensory sensitivity. Cortex; a journal devoted to the study of the nervous system and behavior. 2021; 139: 249-66.

People with synaesthesia have been reported to show atypical electrophysiological responses to certain simple sensory stimuli, even if these stimuli are not inducers of synaesthesia. However, it is unclear whether this constitutes a neural marker that is relatively specific to synaesthesia or whether it reflects some other trait that co-occurs with synaesthesia, but is not specific to it. One candidate is atypical sensory sensitivity (e.g., strong aversion to certain lights and sounds, ‘sensory overload’) which is a feature of both synaesthesia and autism and that varies greatly in the neurotypical population. Using visual evoked-potentials (to stimuli varying in spatial frequency) and auditory-evoked potentials (to stimuli varying in auditory frequency), we found that synaesthetes had a modulated visual evoked-potential around P1/N1 (emanating from fusiform cortex), a greater auditory N1, as well as differences in the time-frequency domain (increased alpha and beta induced power for visual stimuli). This was distinct from that found in non-synaesthetes. By contrast, no significant electrophysiological differences were found that were linked to neurotypical variation in sensory sensitivity.

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