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.

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.

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.

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.

Motor delay - An early and more common "red flag" in girls rather than boys with autism spectrum disorder.

Background: Autism and intellectual disability may coincide and be preceded by global developmental delay or by motor delay.

Hypothesis: Motor delay in the context of global developmental delay is an initial "red flag" for ASD, with added risk in girls.

Objective: To assess early developmental milestones in girls with ASD as compared to diagnosed boys, considering prematurity risk.

Content Words in Child-Directed Speech of Mothers Toward Children With Autism Spectrum Disorder.

Purpose Our study aimed to analyze the characteristics of content word usage in mother's child-directed speech ( CDS) toward children with autism spectrum disorder compared to mother's CDS toward typically developing children. Method We analyzed the lexical characteristics of CDS of mothers of children with autism (16 dyads) and compared them from a language developmental perspective to mothers of 20 typical children at the same level of expressive language development. Results Results suggest that mothers of children with autism use equal amounts of content words at the same language level, but the content consists of significantly more concrete nouns and active verbs and rarely the use of abstract nouns, stative verbs, adjectives, and adverbs.

Benefits of medical clowning in the treatment of young children with autism spectrum disorder.

We investigated the contribution of group therapy delivered by a medical clown to young children diagnosed with autism spectrum disorder (ASD). So far, scientific publications regarding medical clowning focus on general health advantages. The current study is the first controlled research examining the use of medical clowning in the therapy for children with ASD.

Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome.

Objective: To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), with an emphasis on the time lag between initial presentation and on diagnosis in female vs male children.

Study Design: Interviews were conducted with 89 families of children with a final diagnosis of FXS and assessment of time intervals between initial presentation and confirmed molecular diagnosis.

Results: Screening of 117 patients (25 female patients) from the 89 families revealed that less than 20% of patients obtained a diagnosis within the first year of seeking medical attention.

Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel-Results from a Tertiary Child Developmental Center.

Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and intellectual disability. Premutation state can cause several clinical disorders as well. We aimed to perform a nesting approach to acquire data with regard to first degree relatives of index fragile X cases at the largest child development center in Israel in order to map characteristics of Israeli FXS permutation women carriers.