Pubmed du 19/07/21
1. Bee S, Ringland A, Coutellier L. Social impairments in mice lacking the voltage-gated potassium channel Kv3.1. Behavioural brain research. 2021; 413: 113468.
Parvalbumin (PV)-expressing neurons have been implicated in the pathology of autism spectrum disorders (ASD). Loss of PV expression and/or reduced number of PV-expressing neurons have been reported not only in genetic and environmental rodent models of ASD, but also in post-mortem analyses of brain tissues from ASD vs. healthy control human subjects. PV-expressing neurons play a pivotal role in the maintenance of the balance between excitation and inhibition within neural circuits in part because of their fast-spiking properties. Their high firing rate is mostly regulated by the voltage-gated potassium channel Kv3.1. It is yet unknown whether disturbances in the electrophysiological properties of PV-expressing neurons per se can lead to behavioral disturbances. We assessed locomotor activity, social interaction, recognition and memory, and stereotypic behaviors in Kv3.1 wild-type (WT) and knockout (KO) mice. We then used Western Blot analyses to measure the impact of Kv3.1 deficiency on markers of GABA transmission (PV and GAD67) and neural circuit activity (Egr1). Deficiency in Kv3.1 channel is sufficient to induce social deficits, hyperactivity and stereotypic behaviors. These behavioral changes were independent of changes in GAD67 levels and associated with increased levels of PV protein in the prefrontal cortex and striatum. These findings reveal that a loss of PV expression is not a necessary factor to induce an ASD-like phenotype in mice and support the need for further investigation to fully understand the contribution of PV-expressing neurons to ASD pathology.
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2. Gauld C, Poisson A, Reversat J, Peyroux E, Houdayer-Robert F, Rossi M, Lesca G, Sanlaville D, Demily C. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review. BMC psychiatry. 2021; 21(1): 360.
BACKGROUND: Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is therefore associated with neurocognitive disturbances and social cognition, indicating potential functional maladjustment in the affected subjects, and a potentially significant impact on quality of life. Although many isolated cases have been reported in the literature, to date no families have been described. This case reports on a family (three generations) with a frameshift variant in the AUTS2 gene. CASE PRESENTATION: The proband is 13 years old with short stature, dysmorphic features, moderate intellectual disability and autism spectrum disorder. His mother is 49 years old and also has short stature and similar dysmorphic features. She does not have autism disorder but presents an erotomaniac delusion. Her cognitive performance is heterogeneous. The two aunts are also of short stature. The 50-year-old aunt has isolated social cognition disorders. The 45-year-old aunt has severe cognitive impairment and autism spectrum disorder. The molecular analysis of the three sisters and the proband shows the same AUTS2 heterozygous duplication leading to a frame shift expected to produce a premature stop codon, p.(Met593Tyrfs*85). Previously reported isolated cases revealed phenotypic and cognitive impairment variability. In this case report, these variabilities are present within the same family, presenting the same variant. CONCLUSIONS: The possibility of a phenotypic spectrum within the same family highlights the need for joint psychiatry and genetics research.
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3. Jeradeh Boursoulian L, Adeseye V, Malow BA, Ess K. Recurrence rate of the first nonfebrile seizure in children with autism spectrum disorder. Epilepsy & behavior : E&B. 2021; 122: 108187.
OBJECTIVE: Epilepsy prevalence is higher in children with Autism Spectrum Disorder (ASD) and is a contributor to morbidity and mortality. Little is known about the recurrence rate after the first nonfebrile seizure in this population, specifically in regard to seizure type and electroencephalogram (EEG) findings. METHODS: We reviewed pediatric medical records at our institution between 2006 and 2016 for subjects with ASD who had a first seizure. We then looked for risk of a recurrent non-provoked seizure within the next two years. RESULTS: Overall, the recurrence rate in this study was 70.9%. This is much higher than the general population. The recurrence rate was higher in patients who had a generalized convulsion compared to those who had a behavioral arrest. When the first seizure was a generalized convulsion, there was an 84% chance of developing a second convulsion, whereas the recurrence rate was 59% for behavioral arrest type seizures (p = 0.002). The odds of having recurrence when the first seizure is a generalized convulsion was 5.36 higher than when it was a behavioral arrest (95% CI 2.14-13.42, p < 0.001). An abnormal EEG was a strong predictor of seizure recurrence in both seizure types. However, even with a normal EEG, generalized convulsions were more likely to recur within 2 years compared to behavioral arrest (OR 6.3, 95% CI 2.1-19). SIGNIFICANCE: The recurrence rate for nonfebrile seizures in children with ASD is much higher than the general population, especially for generalized convulsions. An abnormal EEG has a strong predictive value for seizure recurrence. However, even when the EEG is normal, the recurrence rate for generalized convulsions is quite high. This is an important finding as epilepsy contributes to morbidity and mortality in this group and may impact clinical decisions about when to start anti-seizure medications.
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4. Kovárník T, Bělohlávek J, Zemánek D, Lambert L. Post MI Ventricular Septal Defect Treated by Percutaneous Implantation of Figulla Flex ASD Occluder. JACC Cardiovascular interventions. 2021; 14(15): e191-e3.
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5. Kubo N, Kitagawa M, Iwamoto S, Kishimoto T. Effects of an attachment-based parent intervention on mothers of children with autism spectrum disorder: preliminary findings from a non-randomized controlled trial. Child and adolescent psychiatry and mental health. 2021; 15(1): 37.
BACKGROUND: Caregivers of children with autism spectrum disorders (ASD) often experience difficulties in responding appropriately to the needs of those children, who typically express attachment in distinct and nonconventional ways. This highlights the need for an attachment-based approach targeted at caregivers of children with ASD. Circle of Security Parenting (COSP), an attachment-based parenting program, is designed to increase caregivers’ sensitivity to children’s attachment needs. The aim of this study was to provide verification of the effectiveness of COSP in mothers of children with ASD. METHODS: This study was a non-randomized controlled trial. Sixty mothers of children with ASD aged 4-12 were recruited. Twenty mothers received the COSP intervention, while 40 did not. The characteristics of children in the control group were matched with those of the intervention group. To evaluate the outcomes of the intervention, changes in parental self-efficacy and mental health were assessed using the Tool to Measure Parenting Self-Efficacy (TOPSE) and the General Health Questionnaire-30 (GHQ-30). The children’s improvement in emotional and behavioral problems was assessed from the mothers’ perspective using the Child Behavior Checklist (CBCL). Both groups completed the assessments in parallel. Evaluations were compared between baseline (T1) and 6-month follow-up (T2). RESULTS: Scores for self-efficacy and mental health of mothers and behavior of children were significantly improved from T1 to T2 in the intervention group, but not in the control group. Participants’ mental health was markedly worsened in the control group. CONCLUSION: This study demonstrated that the COSP program for mothers of children with ASD improved their parental self-efficacy and mental health, and reduced their subjective sense of difficulties related to their children’s behaviors. Our findings support the effectiveness of the attachment-based program for mothers of children with ASD, providing the groundwork for further studies of the attachment-based intervention for children with ASD and their families. Future studies with larger samples and randomization are also needed for direct evaluation of the improvement of children’s attachment security, and for exploration of the synergistic relationship between various family support strategies and COSP. Trial Registration This trial was registered with the University Hospital Medical Information Network Clinical Trial Registry (No. UMIN000039574).
