Motor coordination deficit is a cardinal feature of autism spectrum disorder (ASD). The evaluatio... more Motor coordination deficit is a cardinal feature of autism spectrum disorder (ASD). The evaluation of coordination of children with ASD is either lengthy, subjective (via observational analysis), or requires cumbersome post analysis. We therefore aimed to use tri-axial accelerometers to compare inter-limb coordination measures between typically developed (TD) children and children ASD, while jumping with and without a rhythmic signal. Children aged 5–6 years were recruited to the ASD group (n = 9) and the TD group (n = 19). Four sensors were strapped to their ankles and wrist and they performed at least eight consecutive jumping jacks twice: at a self-selected rhythm and with a metronome. The primary outcome measures were the timing lag (TL), the timing difference of the maximal acceleration of the left and right limbs, and the lag variability (LV), the variation of TL across the 5 jumps. The LV of the legs of children with ASD was higher compared to the LV of the legs of TD childre...
We aimed to compare the performance in a Virtual Reality (VR) game between Typically Developed (T... more We aimed to compare the performance in a Virtual Reality (VR) game between Typically Developed (TD) children and children with Developmental Coordination Disorder (DCD). We then compared the performance in a VR game with the sub-grades of the Movement Assessment Battery for Children (MABC). Twenty TD children (10 boys; mean and SD age 5.1 ± 0.6) and 10 children with DCD (4 boys; mean and SD age 5.6 ± 0.6) participated in the study. The parents filled out the DCD questionnaire. The MABC was administered. Each subject stood on a pressure pad and played a non-immersive VR game. The game score, hand path length, and movement of center of pressure were recorded. The game score achieved by the control group was ~22% higher compared to the game score achieved by the research group (p = 0.042). The path length of the right hand strongly correlated with the visual-motor coordination MABC subcategory score (r = 0.902, p < 0.001), with the balance MABC subcategory score (r = 0.769, p = 0.00...
At the end of the last century Fragile X syndrome was identified, and the main syndrome character... more 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. The number of trinucleotide repeats have a direct effect on the outcome and the need for genetic counseling. We advocate performing genetic tests for every child with developmental delay, learning disabilities, autism spectrum disorders and especially, intellectual impairment. It is also advisable to check the number of nucleotide repeats of the gene, in every woman suffering from infertility or early menopause. In addition, genetic testing should be performed on older adults manifesting early symptoms of Parkin...
To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS)... more 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. 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. 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. Mean age at the time of initial presentation was 12.3 months in male patients and 23 months in female patients, while definitive diagnosis of FXS was made at a mean of 4 and 9 years, respectively. Presenting symptoms of developmental delays were recognized by 72% of parents, and 84% had another child with FXS before the index case diagnosis. Average age of diagnosis for children with FXS born since 2007 was significantly low...
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a tr... more Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP). Expansion of the CGG triplet number above the normal range (n=5-54) towards the so-called premutation status (n=55-199) is associated with increased risk for Fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and Fragile X-Associated Tremor/ Ataxia Syndrome (FXTAS) predominantly in males. In addition, premutation women carriers are at increased risk for learning disabilities, as well as psychologic, endocrine, autoimmune and met...
Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and i... more 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. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling. General information regarding demographics, ethnicity, and associated medical conditions were collected using interviews and structured questionnaires. Thirteen (17 %) of the women who were referred as "carrier" were proven to be actually full mutation. The mean years of education were 14 (±1.51, range 12-17). Twenty-one women (27 %) originated from Tunisia (mainly from the island of Djerba). Ten women (13 %) reported delivery of their affected ...
Parenting a child with disabilities might affect the happiness of the mothers. Hence we adapted W... more Parenting a child with disabilities might affect the happiness of the mothers. Hence we adapted Wallander, Varni, Babani, Banis, and Wilcox&amp;amp;#39;s (1989) disability-stress-coping model to examine the impact of risk factors (specific stressors related to the child&amp;amp;#39;s disability) on the mother&amp;amp;#39;s adaptation (happiness). Intrapersonal factors (attachment) and social-ecological factors (social support) were hypothesized to predict adaptation. Both constitute &amp;amp;#39;risk-resistant&amp;amp;#39; factors, which are mediated by the mother&amp;amp;#39;s perceived general stress and guilt. 191 mothers of a child with a developmental disability (ages 3-7) answered questionnaires on happiness, specific and general stress, attachment, guilt and social support. Attachment avoidance was directly and negatively associated with mothers&amp;amp;#39; happiness. General stress was negatively associated with happiness, and mediated the association between anxious attachment, support, and specific stress with happiness. Guilt was negatively associated with happiness, and served as a mediator between attachment anxiety and support and happiness. The findings of the current research show direct and indirect associations of risk factors with happiness and the role of general stress and feelings of guilt as mediators. This study stresses the importance of attachment and social support to happiness and sheds light on the unique role of guilt in promoting or inhibiting happiness.
Autism spectrum disorders [ASD] are characterized by a wide range of neuropsychiatric comorbid di... more Autism spectrum disorders [ASD] are characterized by a wide range of neuropsychiatric comorbid disorders which change during early development. Coordinated collaboration between therapists from various disciplines and integrating measurements, may Lead to a comprehensive diagnosis of ASD. A diagnostic kindergarten set-up for children with a preliminary diagnosis of ASD or communication disorder can facilitate a multidisciplinary diagnosis, as an integral part of the child and parental intervention process. To examine the changes in the diagnosis of children after one year of observation and treatment in a special education set-up, including aspects such as common neuropsychiatric comorbidity, differential diagnosis and subsequent placement recommendations. Changes in the frequencies of ASD diagnoses were calculated prior to and following participation in the kindergarten for 76 children, who studied in the diagnostic kindergarten for ASD at the Weinberg Child Development Center during the last decade. Frequencies of neuropsychiatric comorbid disorders and differential diagnosis were calculated. It was found that: half (44.7%) of the preliminary diagnoses changed after a year of treatment; 14.2% of the children admitted with other developmental diagnoses, were subsequently diagnosed with ASD and in the cases of 25% of the children with ASD, their diagnosis was removed. Neuropsychiatric comorbid disorders appeared in 66% of cases. The most common differential diagnosis was Language disability, which appeared in 76% of the cases. This study reinforces the importance of a thorough assessment process conducted by a multidisciplinary team during and after treatment. A quarter of the children diagnosed with ASD in early childhood may have a different diagnosis later, usually milder, probably as a consequence of developmental changes combined with intensive treatment.
Increased paternal age has been associated with an increased risk for autism spectrum disorders. ... more Increased paternal age has been associated with an increased risk for autism spectrum disorders. The present study compared the paternal age distribution in autism spectrum disorders children with that of the general population and among children with attention deficit hyperactivity disorder. Study participants were drawn from the records of children diagnosed with one of these conditions in the years 1998-2006 at the Weinberg Child Development Center, Israel. Data regarding paternal age distribution in the general Israeli population were drawn from the yearly official publications of the Central Bureau of Statistics, Israel. Paternal age at the child&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s birth was found for autism spectrum disorders children (n = 268) and attention deficit hyperactivity disorders children (n = 320). Paternal age distribution of the attention deficit hyperactivity disorder children was similar to that of the general population in Israel, whereas autism spectrum disorders children were born to older fathers, compared with either the general population (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001) or children with attention deficit hyperactivity disorder (P = 0.04). These results support the claim that increased paternal age is associated with a birth of a child with autism spectrum disorders, but indicate that this finding cannot be generalized to attention deficit hyperactivity disorder.
The purpose of our research was to study the in-utero and long term post-natal outcome of fetal i... more The purpose of our research was to study the in-utero and long term post-natal outcome of fetal isolated cerebral ventricular atria width between 8 and 10mm. We conducted a retrospective, observational, case-control study, of low risk pregnant women, between 1993 and 2001. One hundred and forty one fetuses with isolated cerebral ventricular atria width between 8 and 10mm, corresponding to 2-4 standard deviations above the mean, and 309 controls, with atrial width below this level, were included for the analysis. Clinical data concerning pre and post-natal outcome was retrieved from computerized medical records. Matching of cases with controls was based on age, with a ratio of 2-3 controls per case. Statistical analysis included: T-test, Chi-Square, and Multiple Logistic Regression analysis. The study group was characterized by a predominance of male gender, left side involvement, and higher birth weight, compared to the control group. Long term post-natal follow-up at a mean age of 12.7 years (±1.9) demonstrated an adjusted odds ratio of 2.589 (95% CI 1.415-4.737, p=0.001), being diagnosed as Attention Deficit Hyperactivity Disorder (ADHD), and treated by Methylphenidate (Ritalin(®)), during childhood, compared to the control group (23.6% and 10.0% respectively) (p=0.001). Cerebral atria width was an independent factor, controlled for the only two significant variants between groups, gender and weight over 90th centile. In conclusions, our preliminary results show that fetuses with prenatal finding of isolated cerebral ventricular atria width between 8 and 10mm are more likely of being diagnosed and treated as ADHD during childhood.
We evaluated the role of transvaginal sonography (TVS) in the investigation of postmenopausal ble... more We evaluated the role of transvaginal sonography (TVS) in the investigation of postmenopausal bleeding (PMB) in 50 women with PMB and 25 asymptomatic postmenopausal women presenting for periodic check-up, who served as controls. All those with PMB had a diagnostic curettage or hysterectomy within a week of TVS examination. Measurement of endometrial thickness was compared with the histopathological diagnosis of the endometrium. Of the 32 patients whose endometrial thickness was more than 5 mm, 22 had pathological changes in the endometrium. These included 6 cases of endometrial cancer and 16 with benign changes. All 18 patients of the PMB group with endometrial thickness less than 5 mm had normal endometrial histology. Endometrial thickness in all asymptomatic controls was less than 5 mm. Our results showed endometrial thickness greater than 5 mm to be 100% sensitive and 64% specific in identifying endometrial pathology. TVS follow-up without curettage may be considered for PMB patients with uniform endometrium less than 5 mm thick.
Motor coordination deficit is a cardinal feature of autism spectrum disorder (ASD). The evaluatio... more Motor coordination deficit is a cardinal feature of autism spectrum disorder (ASD). The evaluation of coordination of children with ASD is either lengthy, subjective (via observational analysis), or requires cumbersome post analysis. We therefore aimed to use tri-axial accelerometers to compare inter-limb coordination measures between typically developed (TD) children and children ASD, while jumping with and without a rhythmic signal. Children aged 5–6 years were recruited to the ASD group (n = 9) and the TD group (n = 19). Four sensors were strapped to their ankles and wrist and they performed at least eight consecutive jumping jacks twice: at a self-selected rhythm and with a metronome. The primary outcome measures were the timing lag (TL), the timing difference of the maximal acceleration of the left and right limbs, and the lag variability (LV), the variation of TL across the 5 jumps. The LV of the legs of children with ASD was higher compared to the LV of the legs of TD childre...
We aimed to compare the performance in a Virtual Reality (VR) game between Typically Developed (T... more We aimed to compare the performance in a Virtual Reality (VR) game between Typically Developed (TD) children and children with Developmental Coordination Disorder (DCD). We then compared the performance in a VR game with the sub-grades of the Movement Assessment Battery for Children (MABC). Twenty TD children (10 boys; mean and SD age 5.1 ± 0.6) and 10 children with DCD (4 boys; mean and SD age 5.6 ± 0.6) participated in the study. The parents filled out the DCD questionnaire. The MABC was administered. Each subject stood on a pressure pad and played a non-immersive VR game. The game score, hand path length, and movement of center of pressure were recorded. The game score achieved by the control group was ~22% higher compared to the game score achieved by the research group (p = 0.042). The path length of the right hand strongly correlated with the visual-motor coordination MABC subcategory score (r = 0.902, p < 0.001), with the balance MABC subcategory score (r = 0.769, p = 0.00...
At the end of the last century Fragile X syndrome was identified, and the main syndrome character... more 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. The number of trinucleotide repeats have a direct effect on the outcome and the need for genetic counseling. We advocate performing genetic tests for every child with developmental delay, learning disabilities, autism spectrum disorders and especially, intellectual impairment. It is also advisable to check the number of nucleotide repeats of the gene, in every woman suffering from infertility or early menopause. In addition, genetic testing should be performed on older adults manifesting early symptoms of Parkin...
To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS)... more 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. 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. 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. Mean age at the time of initial presentation was 12.3 months in male patients and 23 months in female patients, while definitive diagnosis of FXS was made at a mean of 4 and 9 years, respectively. Presenting symptoms of developmental delays were recognized by 72% of parents, and 84% had another child with FXS before the index case diagnosis. Average age of diagnosis for children with FXS born since 2007 was significantly low...
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a tr... more Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP). Expansion of the CGG triplet number above the normal range (n=5-54) towards the so-called premutation status (n=55-199) is associated with increased risk for Fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and Fragile X-Associated Tremor/ Ataxia Syndrome (FXTAS) predominantly in males. In addition, premutation women carriers are at increased risk for learning disabilities, as well as psychologic, endocrine, autoimmune and met...
Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and i... more 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. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling. General information regarding demographics, ethnicity, and associated medical conditions were collected using interviews and structured questionnaires. Thirteen (17 %) of the women who were referred as "carrier" were proven to be actually full mutation. The mean years of education were 14 (±1.51, range 12-17). Twenty-one women (27 %) originated from Tunisia (mainly from the island of Djerba). Ten women (13 %) reported delivery of their affected ...
Parenting a child with disabilities might affect the happiness of the mothers. Hence we adapted W... more Parenting a child with disabilities might affect the happiness of the mothers. Hence we adapted Wallander, Varni, Babani, Banis, and Wilcox&amp;amp;#39;s (1989) disability-stress-coping model to examine the impact of risk factors (specific stressors related to the child&amp;amp;#39;s disability) on the mother&amp;amp;#39;s adaptation (happiness). Intrapersonal factors (attachment) and social-ecological factors (social support) were hypothesized to predict adaptation. Both constitute &amp;amp;#39;risk-resistant&amp;amp;#39; factors, which are mediated by the mother&amp;amp;#39;s perceived general stress and guilt. 191 mothers of a child with a developmental disability (ages 3-7) answered questionnaires on happiness, specific and general stress, attachment, guilt and social support. Attachment avoidance was directly and negatively associated with mothers&amp;amp;#39; happiness. General stress was negatively associated with happiness, and mediated the association between anxious attachment, support, and specific stress with happiness. Guilt was negatively associated with happiness, and served as a mediator between attachment anxiety and support and happiness. The findings of the current research show direct and indirect associations of risk factors with happiness and the role of general stress and feelings of guilt as mediators. This study stresses the importance of attachment and social support to happiness and sheds light on the unique role of guilt in promoting or inhibiting happiness.
Autism spectrum disorders [ASD] are characterized by a wide range of neuropsychiatric comorbid di... more Autism spectrum disorders [ASD] are characterized by a wide range of neuropsychiatric comorbid disorders which change during early development. Coordinated collaboration between therapists from various disciplines and integrating measurements, may Lead to a comprehensive diagnosis of ASD. A diagnostic kindergarten set-up for children with a preliminary diagnosis of ASD or communication disorder can facilitate a multidisciplinary diagnosis, as an integral part of the child and parental intervention process. To examine the changes in the diagnosis of children after one year of observation and treatment in a special education set-up, including aspects such as common neuropsychiatric comorbidity, differential diagnosis and subsequent placement recommendations. Changes in the frequencies of ASD diagnoses were calculated prior to and following participation in the kindergarten for 76 children, who studied in the diagnostic kindergarten for ASD at the Weinberg Child Development Center during the last decade. Frequencies of neuropsychiatric comorbid disorders and differential diagnosis were calculated. It was found that: half (44.7%) of the preliminary diagnoses changed after a year of treatment; 14.2% of the children admitted with other developmental diagnoses, were subsequently diagnosed with ASD and in the cases of 25% of the children with ASD, their diagnosis was removed. Neuropsychiatric comorbid disorders appeared in 66% of cases. The most common differential diagnosis was Language disability, which appeared in 76% of the cases. This study reinforces the importance of a thorough assessment process conducted by a multidisciplinary team during and after treatment. A quarter of the children diagnosed with ASD in early childhood may have a different diagnosis later, usually milder, probably as a consequence of developmental changes combined with intensive treatment.
Increased paternal age has been associated with an increased risk for autism spectrum disorders. ... more Increased paternal age has been associated with an increased risk for autism spectrum disorders. The present study compared the paternal age distribution in autism spectrum disorders children with that of the general population and among children with attention deficit hyperactivity disorder. Study participants were drawn from the records of children diagnosed with one of these conditions in the years 1998-2006 at the Weinberg Child Development Center, Israel. Data regarding paternal age distribution in the general Israeli population were drawn from the yearly official publications of the Central Bureau of Statistics, Israel. Paternal age at the child&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s birth was found for autism spectrum disorders children (n = 268) and attention deficit hyperactivity disorders children (n = 320). Paternal age distribution of the attention deficit hyperactivity disorder children was similar to that of the general population in Israel, whereas autism spectrum disorders children were born to older fathers, compared with either the general population (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001) or children with attention deficit hyperactivity disorder (P = 0.04). These results support the claim that increased paternal age is associated with a birth of a child with autism spectrum disorders, but indicate that this finding cannot be generalized to attention deficit hyperactivity disorder.
The purpose of our research was to study the in-utero and long term post-natal outcome of fetal i... more The purpose of our research was to study the in-utero and long term post-natal outcome of fetal isolated cerebral ventricular atria width between 8 and 10mm. We conducted a retrospective, observational, case-control study, of low risk pregnant women, between 1993 and 2001. One hundred and forty one fetuses with isolated cerebral ventricular atria width between 8 and 10mm, corresponding to 2-4 standard deviations above the mean, and 309 controls, with atrial width below this level, were included for the analysis. Clinical data concerning pre and post-natal outcome was retrieved from computerized medical records. Matching of cases with controls was based on age, with a ratio of 2-3 controls per case. Statistical analysis included: T-test, Chi-Square, and Multiple Logistic Regression analysis. The study group was characterized by a predominance of male gender, left side involvement, and higher birth weight, compared to the control group. Long term post-natal follow-up at a mean age of 12.7 years (±1.9) demonstrated an adjusted odds ratio of 2.589 (95% CI 1.415-4.737, p=0.001), being diagnosed as Attention Deficit Hyperactivity Disorder (ADHD), and treated by Methylphenidate (Ritalin(®)), during childhood, compared to the control group (23.6% and 10.0% respectively) (p=0.001). Cerebral atria width was an independent factor, controlled for the only two significant variants between groups, gender and weight over 90th centile. In conclusions, our preliminary results show that fetuses with prenatal finding of isolated cerebral ventricular atria width between 8 and 10mm are more likely of being diagnosed and treated as ADHD during childhood.
We evaluated the role of transvaginal sonography (TVS) in the investigation of postmenopausal ble... more We evaluated the role of transvaginal sonography (TVS) in the investigation of postmenopausal bleeding (PMB) in 50 women with PMB and 25 asymptomatic postmenopausal women presenting for periodic check-up, who served as controls. All those with PMB had a diagnostic curettage or hysterectomy within a week of TVS examination. Measurement of endometrial thickness was compared with the histopathological diagnosis of the endometrium. Of the 32 patients whose endometrial thickness was more than 5 mm, 22 had pathological changes in the endometrium. These included 6 cases of endometrial cancer and 16 with benign changes. All 18 patients of the PMB group with endometrial thickness less than 5 mm had normal endometrial histology. Endometrial thickness in all asymptomatic controls was less than 5 mm. Our results showed endometrial thickness greater than 5 mm to be 100% sensitive and 64% specific in identifying endometrial pathology. TVS follow-up without curettage may be considered for PMB patients with uniform endometrium less than 5 mm thick.
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