Predicting autism from young Infants' empathic responding: A prospective study.

Difficulties in empathy are frequent among children with autism spectrum disorder (ASD), and often considered a core feature of autism. Reduced empathy during the second year of life has been shown to predict subsequent ASD diagnosis. However, links between empathy in the first year and ASD have not yet been investigated.

Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism.

Introduction: The genes encode the voltage-gated K channel underlying the neuronal M-current, regulating neuronal excitability. Loss-of-function (LoF) variants cause neonatal epilepsy, treatable with the M-current-opener retigabine, which is no longer marketed due to side effects. Gain-of-function (GoF) variants cause developmental encephalopathy and autism that could be amenable to M-current, but such therapies are not clinically available.

Early developmental milestone clusters of autistic children based on electronic health records.

Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits.

Predicting autism traits from baby wellness records: A machine learning approach.

Timely identification of autism spectrum conditions is a necessity to enable children to receive the most benefit from early interventions. Emerging technological advancements provide avenues for detecting subtle, early indicators of autism from routinely collected health information. This study tested a model that provides a likelihood score for autism diagnosis from baby wellness visit records collected during the first 2 years of life.

A Prediction Model of Autism Spectrum Diagnosis from Well-Baby Electronic Data Using Machine Learning.

Early detection of autism spectrum disorder (ASD) is crucial for timely intervention, yet diagnosis typically occurs after age three. This study aimed to develop a machine learning model to predict ASD diagnosis using infants' electronic health records obtained through a national screening program and evaluate its accuracy. A retrospective cohort study analyzed health records of 780,610 children, including 1163 with ASD diagnoses.

Fetal brain growth and infant autistic traits.

Background: Structural differences exist in the brains of autistic individuals. To date only a few studies have explored the relationship between fetal brain growth and later infant autistic traits, and some have used fetal head circumference (HC) as a proxy for brain development. These findings have been inconsistent.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.

The premutation of the fragile X messenger ribonucleoprotein 1 () gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death.

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of expansion.

Objective: Carriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on cognition, and we assumed that there is a direct correlation between the continuous spectrum of specific learning and attention deficits to the number of CGG repeats on the gene.

Methods: A total of 108 women were referred to our center due to a related Fragile X syndrome (FXS) patient, 79 women carried a premutation of 56-199 repeats, and 19 women carried a full mutation of more than 200 CGG repeats on gene.

Executive Function and Working Memory Deficits in Females with Fragile X Premutation.

The Fragile X premutation is a genetic instability of the gene caused by 55-199 recurrences of the CGG sequence, whereas there are only 7-54 repeats of the CGG sequence in the normal condition. While males with the premutation of Fragile X were found to have difficulties in executive functions and working memory, little data have been collected on females. This study is among the first to address executive functions and phonological memory in females with the Fragile X premutation.

Missed initial appointments at Israeli child development centres: Rate, reasons, and associated characteristics.

Introduction: Missed appointments (MAs) at child development centres (ChDCs) cause multiple problems: they preclude timely diagnosis and treatment of both the invited child and children whose appointment was delayed due to overbooking, as well as disrupting efficient organisational management. The aim of this study was to assess the rate and describe the reasons for missed appointments at Israeli ChDCs, and to evaluate the association of socio-demographic, clinical, and administrative variables with MA rates.

Methods: This nested case-control study included all children scheduled for initial appointments (N = 1143) at three centres during 1 year.

Home-quarantine during the initial Covid-19 outbreak in Israel: parent perceived impact on children with ASD.

Background: Studies have reported that Covid-19 home-quarantine periods have had mostly negative psychological impact on children with ASD and their families. Here we examined parent perceived impact of a 6-week quarantine period imposed in Israel at the beginning of the Covid-19 outbreak, in mid-March 2020.

Methods: An anonymous online questionnaire was completed by parents of 268 children with ASD.

Female fragile X premutation carriers are at increased risk for metabolic syndrome from early adulthood.

Background And Aims: Women with primary ovarian insufficiency exhibit an unfavorable cardiovascular risk profile. A common cause for primary ovarian insufficiency is fragile X premutation (FXPC), and data on the cardiovascular risk factors in women with FXPC are scarce. We aimed to assess the prevalences of abnormal metabolic components among FXPC.

The myth of vaccination and autism spectrum.

Background: Among all of the studied potential causes of autism, vaccines have received some of the most scrutiny and have been the topic of many evidence-based studies. These efforts have led the great majority of scientists, physicians, and public health researchers to refute causation between vaccines and autism.

Rationale: This presumed association and concern has been a major contributor to parents' refusal to immunize their children and has become a major threat to public health in secluded populations over the last two decades, even prior to the COVID-19 pandemic.

Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.

Fragile X syndrome (FXS), the most common single-gene cause of intellectual disability and autism spectrum disorder (ASD), is caused by a >200-trinucleotide repeat expansion in the 5' untranslated region of the fragile X mental retardation 1 () gene. Individuals with FXS can present with a range of neurobehavioral impairments including, but not limited to: cognitive, language, and adaptive deficits; ASD; anxiety; social withdrawal and avoidance; and aggression. Decreased expression of the γ-aminobutyric acid type A (GABA) receptor subunit and deficient GABAergic tonic inhibition could be associated with symptoms of FXS.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018-2020).

The Weak Link: Hypotonia in Infancy and Autism Early Identification.

Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis. The AAP recommends screening all children for ASD at 18 and 24 months followed by a comprehensive evaluation for children with developmental concerns. More recently it has been recommended that the evaluation should be performed at a younger age, with a diagnosis being made as early as the beginning of the second year of life resulting in earlier intensive intervention.

Cognitive achievements in school-age children born following assisted reproductive technology treatments: A prospective study.

Background: While assisted reproductive technology is increasingly prevalent, there is concern amid conflicting findings reported regarding the long-term outcomes of children born following these treatments. The aim of this research was to investigate aspects of cognitive development in early school-age Israeli children born following assisted reproductive technology (ART) treatments, compared to those spontaneously conceived (SC).

Method: This prospective follow-up study was based on an Israeli cohort recruited from June 2006 to December 2008, that included 561 women whose pregnancies were achieved by ART treatments and 600 women whose pregnancies were SC.

How Are They Doing? Neurodevelopmental Outcomes at School Age of Children Born Following Assisted Reproductive Treatments.

Objective: The purpose of this study was to assess major neurodevelopmental aspects of children conceived by assisted reproductive treatments compared to spontaneously conceived children during the early school years.

Material & Methods: In this follow-up study, mothers of 358 children born following assisted reproductive treatments and 401 spontaneously-conceived children were interviewed by telephone regarding their children's health and development, when the children were 7-8 years old. The main outcomes were maternal responses to 4 questionnaires: Developmental Coordination Disorder Questionnaire, Short Sensory Profile, Autism Spectrum Screening Questionnaire, and the Attention-deficit hyperactive disorder (ADHD) Child Symptom Inventory-4 subscale.

Autism risk linked to prematurity is more accentuated in girls.

Introduction: Prematurity has been identified as a risk factor for Autism Spectrum Disorder (ASD). The link between Autism Spectrum Disorder (ASD) and birth-week has not been strongly evidenced. We evaluated the correlation between the degree of prematurity and the incidence of autism in a cohort of 871 children born prematurely and followed from birth.

Associations and Dissociations among Phonological Processing Skills, Language Skills and Nonverbal Cognition in Individuals with Autism Spectrum Disorder.

Aims: The purpose of this study was to examine the nature of phonological processing in individuals with autism spectrum disorder (ASD) as it pertains to their nonverbal cognitive and linguistic abilities.

Methods: Twenty-one participants between the ages of 9 and 21 years were administered a nonverbal cognitive assessment (Raven test), a language measure that requires receptive and expressive knowledge of semantics, syntax and morphology, as well as the integration across these language domains (CELF-4), and a measure of phonological processing (CTOPP).

Results: Results show that performance on nonword repetition (NWR) that reflects an aspect of phonological memory was significantly low, whereas performance on phoneme reversal, phoneme elision, blending words and memory for digits was within the normal range.