Incomplete Gestation has an Impact on Cognitive Abilities in Autism Spectrum Disorder.

Extreme prematurity is known as a risk factor for autism spectrum disorder (ASD). However, the association between prematurity and ASD, for children born moderately and late preterm (MLPT) and those born early term (ET), is less established. This retrospective study aimed to characterize the phenotypic characteristics (i.e. behavioral profile and cognitive abilities) of 254 children with ASD, between 3 and 15 years of age, born MLPT (19 children), ET (60 children) and full term (175 children). MLPT and ET births do not modify ASD symptomatology, but modify cognitive development. The results highlight that incomplete gestation, i.e., MLPT or ET, has a negative impact on both verbal and nonverbal cognitive abilities, in children with neurodevelopmental vulnerability.

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Since the online publication of the above article, the authors have noted errors with the author list. The author names were listed as '(last name)(first name)' instead of '(first name)(last name)'.

[How and why to diagnose autism?] / Comment et pourquoi faire le diagnostic d'autisme ?

How and why to diagnose autism? The diagnosis of autism spectrum disorder can be made today before the age of 3 years. a consensus is emerging today that early care is fundamental to improving behavioral prognosis. In fact the determining neural plasticity in the first years of life of all children is the key argument of the search for early detection. Beyond the disorders highlighted, any concern of parents for development, especially that of language and social interaction, should be considered as a major warning sign and give rise to a thorough review of the development of the child by the doctor ensures his usual follow-up, within the framework of a consultation dedicated to the identification of a TSA. The child must quickly be referred to a second-line team trained in early diagnosis.

Comment et pourquoi faire le diagnostic d'autisme ? Le diagnostic de trouble du spectre de l'autisme peut être aujourd'hui porté avant l'âge de 3 ans. Un consensus se dégage aujourd'hui pour dire que des soins précoces sont fondamentaux pour une amélioration du pronostic comportemental. En fait, la plasticité neuronale déterminante dans les premières années de vie de tous les enfants est l'argument clé de la recherche d'un dépistage précoce. Au-delà des troubles mis en exergue, toute inquiétude des parents pour le développement, et particulièrement celui du langage et des interactions sociales, doit être considérée comme un signe d'alerte majeur et donner lieu à un examen approfondi du développement de l'enfant par le médecin assurant son suivi habituel, dans le cadre d'une consultation dédiée au repérage d'un trouble du spectre de l'autisme. Rapidement, l'enfant doit être orienté vers une équipe de seconde ligne formée au diagnostic précoce.

Autism is a prenatal disorder: Evidence from late gestation brain overgrowth.

This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth of body fetal parameters indicated that head overgrowth was not because of overall body overgrowth. Moreover, postnatal results replicated previously and reported head overgrowth. A critical time window for atypical brain development in autism is hypothesized to begin from the 22nd week of amenorrhea. This period is critical for cortical lamination and glial activation. A pathophysiological cascade is suggested with interactions between candidate genes and environmental factors. Autism Research 2018, 11: 1635-1642. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: It is now widely acknowledged in the scientific community, that autism is a neurodevelopmental disorder. Recent evidence from animal and pathological studies has implicated the in utero period. However, the precise time of onset of abnormal brain development remains unknown. This retrospective study reports novel findings, identifying an atypical head growth trajectory in children with autism, during the in utero period (after the 22nd week of amenorrhea). In the same children, postnatal head overgrowth was also observed. Late gestation is identified as a critical period for atypical brain development underlying autism symptoms.

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Phelan-McDermid syndrome is related to terminal 22q13 deletions of various sizes affecting the SHANK3 gene. In this neurodevelopmental disorder, behavioural symptoms of autism spectrum disorder (ASD) are reported in half of cases. Extensive clinical and neurophysiological characterization is lacking to understand the genotype-phenotype correlation. Eighteen patients (8 males, mean age 12.7 years, SD = 9.2) with known 22q13 deletions were fully explored with determination of deletion size, along with behavioural, language and cognitive standardized assessments. Neurophysiological indices previously reported to be altered in autism (i.e., eye tracking in a social/non-social task and auditory evoked potential mismatch) were also recorded. Thirty-nine percent met ASD clinical criteria, exceeding cut-off scores on both ADI-R (Autism Diagnosis Interview based on the period spanning 4-5 years of age) and ADOS-2 (Autism Diagnosis Observation Schedule for the current period). All patients had intellectual disability and language disability. Deletion size was significantly correlated with expressive and receptive language disability but not with ASD standardized assessment scores. Developmental Quotient tended to be lower in patients with the largest deletions. Using Eye Tracking, smaller pupil size, which is typically described in ASD, was not observed in these patients. Furthermore, atypical shortened latency of mismatch negativity response previously reported in ASD was not observed, whereas the N250 pattern, related to language, was affected. Language disability combined with cognitive deficits may lead to autistic behavioural symptoms, but with different neurophysiological networks compared to typical autism. These results highlight the indication for early speech therapy rather than intensive autism programme to treat these patients.

Neural correlates of delusional infestation responding to aripiprazole monotherapy: a case report.

BACKGROUND: The pathophysiology and appropriate pharmacological interventions for delusional infestation remain unknown. CASE PRESENTATION: Here, we report a case of primary delusional infestation successfully treated with aripiprazole. We performed functional magnetic resonance imaging (fMRI) to investigate brain structures and functional modifications. Before antipsychotic treatment, pre- versus post-treatment fMRI images revealed a marked increase in brain activation in the supplementary motor area (SMA). CONCLUSION: Our results highlight the efficacy and safety of aripiprazole in the treatment of delusional infestation and the possible role of SMA dysfunction in delusional infestation. Indeed, our results suggest that psychiatric improvement of delusional infestation is associated with normalization of brain activity, particularly in the SMA.