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Background Sleep difficulties have been reported in up to 85% of children with Attention Deficit hyperactivity disorder (ADHD). Children with ADHD exhibit commonly sensory modulation difficulties (SMD) and experience more significant functional difficulties. Sleep difficulties have also been associated with SMD. The aim of this study was to evaluate whether SMD are associated with sleep difficulties in children with ADHD. Methods We assessed sleep difficulties using the Children's Sleep Habits Questionnaire, and SMD using the Short Sensory Profile (SSP) questionnaire. A total of 25 children with ADHD and atypical sensory profiles, 13 children with ADHD and typical sensory profiles and 38 children used as controls (all children aged 8–11 years) were included. Results Sleep difficulties were detected in 86.4% of children with ADHD and atypical SSPs, as compared to 30.8% of children with ADHD and typical SSPs, and 16.7% of controls. A multivariate logistic regression revealed that children with ADHD and atypical SSPs had significantly increased odds for sleep difficulties as compared to controls (OR = 32.4; 95% CI 4.0–260.1, p = 0.001), while children with ADHD and typical SSPs were indistinguishable from controls. Suspected confounders (gender, age, mother's education, and stimulant therapy) did not contribute to sleep difficulties. Conclusion In this pilot study, SMD were associated with sleep difficulties in children with ADHD.

Background To provide insight on physicians’ perspectives concerning recent changes in the incidence and diagnostic process of Autism Spectrum Disorder (ASD) compared to other mental and neurodevelopmental disorders. Method A questionnaire was sent to 191 specialists in child neurology and child development, and 200 child psychiatrists in Israel. Information was collected on professional background, as well as on physicians’ opinions concerning the accuracy and rate of ASD diagnosis compared to that of cerebral palsy (CP), mental illness, and Attention Deficit Hyperactivity Disorder (ADHD). For each closed-ended question, a global chi-square test for categorical variables was performed. Results 115 (60.2%) of specialists in child neurology and development, and 59 (29.5%) of child psychiatrists responded. Most physicians (67.2%) indicated that there was a moderate/significant increase in the incidence of ASD, which was higher than similar responses provided for CP (2.9%, p p p = 0.56). 52.8% of physicians believed that in more than 10% of clinical assessments, an ASD diagnosis was given despite an inconclusive evaluation (CP: 8.6%, p p = 0.03; ADHD: 68.4%, p = 0.03). Conclusion The clinicians perceive both ASD and ADHD as over-diagnosed disorders. The shared symptomology between ASD and other disorders, coupled with heightened awareness and public de-stigmatization of ASD and with the availability of ASD-specific services that are not accessible to children diagnosed with other conditions, might lead clinicians to over-diagnose ASD. It is advisable to adopt an approach in which eligibility for treatments is conditional on function, rather than solely on a diagnosis. The medical community should strive for accurate diagnoses and a continuous review of diagnostic criteria.

Children with ASD show great variability in their overall linguistic profile. ASD and developmental language disorders (DLD) are seen today as co-morbid conditions. Researchers differentiate between individuals with ASD who have language impairments (ALI-Autism Language Impaired) and those who develop typical language (ALN- Autism Language Normal). This chapter describes the difference between communication, language comprehension, and speech production which together constitute the areas that dictate the linguistic profile of individuals with ASD.

Objectives To evaluate the sex-specific effects of stimulants in children with attention-deficit/hyperactivity disorder (ADHD) on body mass index (BMI) z and height z trajectories. Study design A retrospective cohort study using the database of Israel Clalit Health Services was performed. Participants included 5- to 18-year-old insured patients with documentation of at least 2 consecutive prescriptions of stimulant drugs for ADHD. Participants were further compared with sex- and age-matched insured control patients without ADHD. Results A total of 4561 (66% boys) participants with ADHD were included. Of these, 2151 (70% boys) had follow-up data for ≥2 years of treatment. A decline of ≥1 SD in height and BMI z score was observed in 10.1% and 13.2% of the cohort, respectively. During ≥2 years follow-up, boys had a greater decline in height z score (~0.2 SD) than girls (~0.06 SD). Boys' height z score continued to decline after 1 and ≥2 years, and girls' height z score declined after 1 year, and then stabilized. The trajectory of BMI z score of boys and girls was similar, showing a greater decline after 1 year, followed by an incline after ≥2 years. Younger age at stimulants initiation, better adherence, longer treatment duration, and lower socioeconomic status were correlated with a greater impact on growth attenuation. The non-ADHD group (n = 4561, 66% boys) had baseline height z score and BMI z score similar to those in children with ADHD before treatment initiation. Height z score and BMI z score were greater in children without ADHD compared with children with ADHD following 1 year of treatment (P Conclusions These findings highlight the importance of growth monitoring accompanied with dietary counseling in children with ADHD treated with stimulants.

Coordination is often observed as body parts moving together. However, when producing force with multiple fingers, the optimal coordination is not to produce similar forces with each finger, but rather for each finger to correct mistakes of other fingers. In this study, we aim to determine whether and how this skill develops in children aged 4-12 years. We measured this sort of coordination using the uncontrolled manifold hypothesis (UCM). We recorded finger forces produced by 60 typically developing children aged between 4 and 12 years in a finger-pressing task. The children controlled the height of an object on a screen by the total amount of force they produced on force sensors. We found that the synergy index, a measure of the relationship between "good" and "bad" variance, increased linearly as a function of age. This improvement was achieved by a selective reduction in "bad" variance rather than an increase in "good" variance. We did not observe differences between males and females, and the synergy index was not able to predict outcomes of upper limb behavioral tests after controlling for age. As children develop between the ages of 4 and 12 years, their ability to produce negative covariation between their finger forces improves, likely related to their improved ability to perform dexterous tasks.

(i) To compare children with DCD and typically developing participants via standard motor assessments, two interactive virtual games, measures of physical, social and cognitive self-competence and feedback while playing the virtual games and (ii) To examine the contribution of age and each motor assessment to predict self-competence.Participants were 25 boys with DCD and 25 typically developing boys, aged 5-9 years. They completed the M-ABC-2, the Pictorial Scale of Perceived Competence, the 6-Minute Walk Test, and then played the two Kinect games and completed the Short Feedback Questionnaire for Children.Children with DCD showed lower physical competence and lower performance than the typical controls in all standard motor assessments. This performance significantly correlated with the children achievements in part of virtual games and with their self-perceived experience while performing within virtual environments. Among the DCD group, Kinect Running game significantly predicted physical and social competence.The significant correlations between the virtual games and standard motor assessments support the feasibility of using these games when evaluating children with DCD for the richer profile they provide. Implications for rehabilitation Clinicians should refer to the impacts of DCD on child's self-competence and daily life. Technological rehabilitation and the use of VR games have the potential to improve self-competence of children with DCD. By including VR games that simulate real life in the intervention for DCD, clinicians may raise child's enjoyment, self-competence and involvement in therapy.

A journal's impact factor (IF) may be boosted by increasing self-citations. We aimed to determine the self-citation rate (SCR) of pediatric journals registered in the Journal Citations Report (JCR), to evaluate the impact of SCR upon the IF and to determine the effect of the SCR of a journal on its IF. We found 117 journals categorized as pediatric journals by the JCR (as of 2013). The median and range of SCR, IF and corrected IF (IF without self-citations) were 9 % (0---30 %), 1.54 (0---6.35) and 1.37 (0---5.87) respectively. No differences were found between general and subspecialty journals in terms of SCR, IF or corrected IF. Spearman's ranked correlation showed that IF was significantly and inversely correlated with SCR (r = ź0.28, P = 0.002; R2 = 0.08). There was a significant difference between IF and corrected IF among all journals (1.74 ± 1.04 vs 1.59 ± 0.98, P < 0.001). Self-citation is relatively rare in pediatric journals. Importantly and unlike other fields of medicine, self-citation was found to be more prevalent in journals with a lower IF and also with lower corrected IF.

Purpose: The purpose was to examine whether children diagnosed with motor problems in the preschool period still exhibit motor problems at school age and the impact of these difficulties on participation. Method: The study group comprised 60 children 7-12 years old who were referred to occupational therapy 4-6 years prior to study initiation due to motor difficulties. The control group comprised 28 age-matched children with typical development. Parents completed the Participation, Developmental Coordination Disorder and Performance Skill Questionnaire 4-6 years after treatment. Results: Significant differences were found between children with and without motor difficulties in motor function, but not in any of the participation domains except for parental satisfaction. Children in the control group had significantly higher scores than children with motor difficulties in motor and process skills. Conclusions: Motor difficulties persist into school years. Children with motor difficulties manifest performance skill problems, however they succeed in narrowing the gap and participate similar to their peers.

Prosody production is highly personalized, related to both the emotional and cognitive state of the speaker and to the task being performed. Fundamental frequency (F main) is a central measurable feature of prosody, associated with having an attention deficit hyperactive disorder (ADHD). Since methylphenidate is an effective therapy for ADHD, we hypothesized that it will affect the fundamental frequency of ADHD patients.The answers of 32 adult ADHD patients were recorded while performing two computerized tasks (cognitive and emotional). Evaluations were performed at baseline and an hour after patients received methylphenidate.A significant effect of methylphenidate was observed on the fundamental frequency, as opposed to other parameters, of prosody. This change was evident while patients performed a cognitive, as opposed to an emotional, task. This change was seen in the 14 female ADHD patients but not in the 18 male ADHD patients. The fundamental frequency while performing a cognitive task without methylphenidate was not different in the female ADHD group, from 22 female controls.This pilot study supports prosodic changes as possible objective and accessible dynamic biological marker of treatment responses specifically in female ADHD.

Naming is a complex, multi-level process. It is composed of distinct semantic and phonological levels. Children with naming deficits produce different error types when failing to retrieve the target word. This study explored the error characteristics of children with language impairment compared to those with typical language development. 46 preschool children were tested on a naming test: 16 with language impairment and a naming deficit and 30 with typical language development. The analysis compared types of error in both groups. In a group level, children with language impairment produced different error patterns compared to the control group. Based on naming error analysis and performance on other language tests, two case studies of contrasting profiles suggest different sources for lexical retrieval difficulties in children. The findings reveal differences between the two groups in naming scores and naming errors, and support a qualitative impairment in early development of children with naming deficits. The differing profiles of naming deficits emphasise the importance of including error analysis in the diagnosis.

Background In 2003, several hundred Israeli infants risked thiamine deficiency after being fed a soy-based formula deficient in thiamine. Approximately 20 patients were seriously affected, and three of them died. We report the clinical presentation of acute encephalopathy in 11 children and the long-term sequelae of eight children who initially survived. Patients In the acute phase, six had bulbar signs, five had ophthalmologic signs and two had phrenic neuropathy. Three of the five patients with cardiac involvement had cardiomyopathy and died in the acute phase. One patient presented with a complete atrioventricular block. Results In the long-term, one patient, who was in a chronic vegetative state, died after 6 years. Seven children exhibited mental retardation and motor abnormalities, six developed severe epilepsy, two early kyphoscoliosis, and one patient remained with a complete atrioventricular block. Conclusions Infants who survive severe infantile thiamine deficiency have serious residual motor and cognitive sequelae as well as epilepsy.

Breastfeeding has a positive influence on physical and mental development. Attention-deficit/hyperactivity disorder (ADHD) is a common neurobehavioral disorder with major social, familial, and academic influences. The present study aimed to evaluate whether ADHD is associated with a shorter duration of breastfeeding.In this retrospective matched study, children 6-12 years old diagnosed at Schneider's Children Medical Center (Petach Tikva, Israel) with ADHD between 2008 and 2009 were compared with two control groups. The first one consisted of healthy (no ADHD) siblings of ADHD children; the second control group consisted of children without ADHD who consulted at the otolaryngology clinic. A constructed questionnaire about demographic, medical, and perinatal findings, feeding history during the first year of life, and a validated adult ADHD screening questionnaire were given to both parents of every child in each group.In children later diagnosed as having ADHD, 43% were breastfed at 3 months of age compared with 69% in the siblings group and 73% in the control non-related group (p=0.002). By 6 months of age 29% of ADHD children were breastfed compared with 50% in the siblings group and 57% in the control non-related group (p=0.011). A stepwise logistic regression that included the variables found to be significant in univariate analysis demonstrated a significant association between ADHD and lack of breastfeeding at 3 months of age, maternal age at birth, male gender, and parental divorce.Children with ADHD were less likely to breastfeed at 3 months and 6 months of age than children in the two control groups. We speculate that breastfeeding may have a protective effect from developing ADHD later in childhood.

BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade. Distinctive phenotypic features are the presence of "kinky" hair and long eyelashes. The genetic basis of the disease has been well established, with over 40 associated mutations identified in the gene GAN, encoding the BTB-KELCH protein gigaxonin, involved in intermediate filament regulation. METHODS: An Illumina Human CytoSNP-12 array followed by whole exome sequence analysis was used to identify the disease associated gene mutation in a large consanguineous family diagnosed with Charcot-Marie-Tooth disease type 2 (CMT-2) from which all but one affected member had straight hair. RESULTS: Here we report the identification of a novel GAN missense mutation underlying the CMT-2 phenotype observed in this family. Although milder forms of GAN, with and without the presence of kinky hair have been reported previously, a phenotype distinct from that was investigated in this study. All family members lacked common features of GAN, including ataxia, nystagmus, intellectual disability, seizures, and central nervous system involvement. CONCLUSIONS: Our findings broaden the spectrum of phenotypes associated with GAN mutations and emphasize a need to proceed with caution when providing families with diagnostic or prognostic information based on either clinical or genetic findings alone.

The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified. Mutations in RAPSN were identified in 13 kinships in Israel. The most common mutation was c.-38A>G detected in 8 patients of Iranian and/or Iraqi Jewish origin. Four different recessive mutations in COLQ were identified in 11 kinships, 10 of which were of Muslim-Arab descent. Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7. In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected.

Human central nervous system (CNS) development is a complex process influenced by genes and environment interactions. Any interference to this orderly pre-planned process may cause variable congenital anomalies of the CNS with severe developmental implications such as learning, attention and intellectual disabilities, autism, psychiatric disturbances, epilepsy, perturbations in activities of daily living, motor and sensory impairment, visual and hearing problems and endocrine disorders.

A group of 34 children and adolescents suspected of having attention-deficit hyperactivity disorder were referred for a computerized evaluation that included sustained attention, working memory, planning, and set-shifting. Although only sustained attention had reasonable specificity, all tests had questionable contribution to the diagnostic evaluation.