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.

Fighting SARS-CoV-2 with green seaweed sp. extract: extraction protocol predetermines crude ulvan extract anti-SARS-CoV-2 inhibition properties in Vero-E6 cells assay.

Due to the global COVID-19 pandemic, there is a need to screen for novel compounds with antiviral activity against SARS-COV-2. Here we compared chemical composition and the  anti- SARS-COV-2 activity of two different sp. crude ulvan extracts: one obtained by an HCl-based and another one by ammonium oxalate-based (AOx) extraction protocols.

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.

Variability of Coordination in Typically Developing Children Versus Children with Autism Spectrum Disorder with and without Rhythmic Signal.

Motor coordination deficit is a cardinal feature of autism spectrum disorder (ASD). Theevaluation of coordination of children with ASD is either lengthy, subjective (via observationalanalysis), or requires cumbersome post analysis. We therefore aimed to use tri-axial accelerometersto compare inter-limb coordination measures between typically developed (TD) children and childrenASD, while jumping with and without a rhythmic signal.

Bromopyrrole Alkaloids of the Sponge Collected Near the Israeli Mediterranean Coastline.

Chemical investigation of the Mediterranean Sea sponge, , collected off the Tel Aviv coast, yielded eight new bromopyrrole metabolites, agesamine C (), dioroidamide A (), slagenin D (), (-)-monobromoagelaspongin (), (-)-11-deoxymonobromoagelaspongin (), (-)-11--methylmonobromoagelaspongin (), -dispacamide (), and pyrrolosine (), along with 18 known bromopyrrole alkaloids and a known bromotyrosine derivative. The structures of the new metabolites were elucidated by analysis of the spectroscopic and spectrometric data, including 1D and 2D NMR, ECD, and high-resolution mass spectrometry. The sponge extract exhibited antimicrobial activity against pathogenic and environmental bacteria, and quorum sensing inhibitory activity (QSI) against .

Ethical Dilemmas Linked to Fragile X Testing of Minors-a Preliminary Survey Among Professionals.

Asymptomatic female carriers of the FMR1 premutation at childbearing age have been mostly identified through prenatal genetic testing, which is routinely proposed in Israel. During the last few years, a premutation phenotype in males and females has been defined-FXAND, including neuropsychiatric disorder, learning difficulties, endocrine dysfunction, and premature ovarian failure. So when a family at risk is identified, should individuals be tested for premutation even if minors? In order to understand what professionals' views are with regard to testing FMR1 premutation in minors, we performed a questionnaire testing both ethical attitudes and knowledge.

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.

Improvement of Language in Children with Autism with Combined Donepezil and Choline Treatment.

The safety and efficacy of a novel combination treatment of AChE inhibitors and choline supplement was initiated and evaluated in children and adolescents with autism spectrum disorder (ASD). Safety and efficacy were evaluated on 60 children and adolescents with ASD during a 9-month randomized, double-blind, placebo-controlled trial comprising 12 weeks of treatment preceded by baseline evaluation, and followed by 6 months of washout, with subsequent follow-up evaluations. The primary exploratory measure was language, and secondary measures included core autism symptoms, sleep and behavior.

Sparse NIR optimization method (SNIRO) to quantify analyte composition with visible (VIS)/near infrared (NIR) spectroscopy (350 nm-2500 nm).

Visual-Near-Infra-Red (VIS/NIR) spectroscopy has led the revolution in high-throughput phenotyping methods used to determine chemical and structural elements of organic materials. In the current state of the art, spectrophotometers used for imaging techniques are either very expensive or too large to be used as a field-operable device. In this study we developed a Sparse NIR Optimization method (SNIRO) that selects a pre-determined number of wavelengths that enable quantification of analytes in a given sample using linear regression.

[FROM GENETICS OF FRAGILE X SYNDROME TO DEVELOPMENT OF TARGETED AND PERSONALIZED DRUG THERAPY].

At the end of the last century Fragile X syndrome was identified, and the main syndrome characteristics were discovered. The syndrome is caused from a flaw in the number of nucleotide repeats that encodes for a regulatory protein which is critical for neural connectivity and normal brain development. The syndrome is characterized by neurodevelopmental and intellectual disabilities, autism spectrum features and other clinical features associated with the same gene aberration.

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.

Mitochondrial group I and group II introns in the sponge orders Agelasida and Axinellida.

Background: Self-splicing introns are present in the mitochondria of members of most eukaryotic lineages. They are divided into Group I and Group II introns, according to their secondary structure and splicing mechanism. Being rare in animals, self-splicing introns were only described in a few sponges, cnidarians, placozoans and one annelid species.

Prolonged auditory brainstem responses in infants with autism.

Numerous studies have attempted to identify early physiological abnormalities in infants and toddlers who later develop autism spectrum disorder (ASD). One potential measure of early neurophysiology is the auditory brainstem response (ABR), which has been reported to exhibit prolonged latencies in children with ASD. We examined whether prolonged ABR latencies appear in infancy, before the onset of ASD symptoms, and irrespective of hearing thresholds.

Long-Term Maternal Stress and Post-traumatic Stress Symptoms Related to Developmental Outcome of Extremely Premature Infants.

In this study, we examined the relations between the severity of developmental outcomes of extremely low birth weight (ELBW) children and their mothers' stress and post-traumatic stress disorder (PTSD) symptoms, 4-16 years after birth. Israeli mothers (N = 78) of a cohort of extremely premature infants (24-27 weeks) born 4-16 years earlier were asked to report about the medical and developmental condition of their child and their current perceived stress and PTSD symptoms. Results show that mothers of ELBW children with normal development reported the lowest perceived stress compared with mothers of ELBW children with developmental difficulties.

Assessment of Abilities and Comorbidities in Children With Cerebral Palsy.

This study examines major comorbidities in children with severe cerebral palsy and the feasibility of psychological tests for measuring abilities in a more impaired population. Eighty psychological evaluations of children with cerebral palsy aged 1.8 to 15.

Balance deficit enhances anxiety and balance training decreases anxiety in vestibular mutant mice.

Treatment of anxiety disorders by either pharmacological or behavioral means is applied with the intention to directly target the limbic system or high brain centers that down-regulate limbic activity. In spite of intense and long treatment, remission is not achieved in many patients, suggesting that their pathophysiology is not addressed by either of the above treatments. An alternative pathophysiology may be a disordered vestibular system, which may be studied in the context of comorbidity of balance and anxiety disorders.

Fulvitalea axinellae gen. nov., sp. nov., a member of the family Flammeovirgaceae isolated from the Mediterranean sponge Axinella verrucosa.

The yellow-pigmented, non-motile, Gram-negative, strictly aerobic, rod-shaped bacterial strain VI.18(T) was isolated from the Mediterranean sponge Axinella verrucosa collected off the coast near Sdot Yam, Israel. Results from 16S rRNA gene sequence analysis indicated that the isolate belonged to the family Flammeovirgaceae.

Aureivirga marina gen. nov., sp. nov., a marine bacterium isolated from the Mediterranean sponge Axinella verrucosa.

Two bacterial strains, VI.14 and VIII.04(T), were isolated from the Mediterranean sponge Axinella verrucosa collected off the Israeli coast near Sdot Yam.

Luteivirga sdotyamensis gen. nov., sp. nov., a novel bacterium of the phylum Bacteroidetes isolated from the Mediterranean sponge Axinella polypoides.

A novel aerobic bacterium, designated strain PIII.02(T), was isolated from a Mediterranean sponge (Axinella polypoides) collected off the Israeli coast near Sdot Yam. The non-motile cells were Gram-staining-negative, oxidase-positive and catalase-positive.

[Gastrointestinal symptoms in pediatric patients with attention deficit and hyperactivity disorders].

Background: Only a few studies have addressed the subject of physical manifestations in children with attention deficit hyperactivity disorder (ADHD) and gastrointestinal (GI) complaints, although pharmacological treatments for ADHD may have GI symptoms as a main side effect.

Aim: The goal of this study was to assess whether children with ADHD have a higher frequency of GI symptoms compared with healthy children in the general population.

Method: The study group included 62 children with ADHD and 57 healthy children as a control group.

Progressive vestibular mutation leads to elevated anxiety.

Anxiety disorders are among the most common mental disorders, and are comorbid with balance disorders in a significant proportion of these individuals. Presently, it is unclear whether anxiety and balance disorders are causally related, and what direction this causality may take. We argue that balance disorders may predispose an individual to anxiety and that demonstration of such causality may be informative to the development of preferred treatment for such individuals.

Mice with vestibular deficiency display hyperactivity, disorientation, and signs of anxiety.

Previous studies revealed that vestibular cues are crucial for exploration in the absence of visual cues. The working hypothesis of this study was, accordingly, that mice with vestibular dysfunction would become disoriented or unable to globally explore an unfamiliar environment. In 2- and 3-month-old mutant headbanger (Hdb) mice, stereocilia of hair cells are abnormally elongated, yet maintain partial staircase arrangement, suggesting some spared vestibular function at these ages.