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The ability to coordinate finger forces to dexterously perform tasks develops in children as they grow older. Following brain injury, either developmental (as in cerebral palsy-CP) or acquired (as in traumatic brain injury-TBI), this developmental trajectory will likely be impaired. In this study, we compared finger coordination in a group of children aged 4-12 with CP and TBI to a group of typically developing children using an isometric pressing task. As expected, deficits were observed in functional tests (Jebsen Taylor test of hand function, Box and Block test) for both groups, and children in both groups performed the pressing task less well than the control group. However, differing results were observed between the CP and TBI groups when using the uncontrolled manifold hypothesis to look at the synergy index. This index measures the relative amount of "good" (does not affect the outcome measure) and "bad" (does affect the outcome measure) variability, where in this case the outcome measure is the total force produced by the fingers. While children with CP were more variable in their performance, their synergy index was not significantly different from typically developing children, suggesting the development of compensatory strategies. In contrast, the children following TBI showed performance that got worse as a function of age (i.e., the older children with TBI performed worse than the younger children with TBI). These differences between the groups may be a result of different areas of brain injury typically observed in CP and TBI, and the different amount of time that has passed since the injury.
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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 < .001). CONCLUSIONS: These findings highlight the importance of growth monitoring accompanied with dietary counseling in children with ADHD treated with stimulants.
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Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Estatura , Índice de Masa Corporal , Estimulantes del Sistema Nervioso Central/uso terapéutico , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Israel , Masculino , Estudios Retrospectivos , Factores de Riesgo , Factores Sexuales , Factores SocioeconómicosRESUMEN
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.
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Trastorno por Déficit de Atención con Hiperactividad , Trastornos del Sueño-Vigilia , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Niño , Escolaridad , Humanos , Proyectos Piloto , Encuestas y CuestionariosRESUMEN
Using speech to communicate pragmatic functions is challenging among individuals with Autism Spectrum Disorder (ASD). Given the role language plays in developing everyday skills, we traced the unique pragmatic profile of early words, seeking comparison to typically developing (TD) toddlers at similar lexical stages. Twenty-four mother-toddler dyads participated (9 ASD and 15 TD). Dyads were video recorded when toddlers reached a productive lexicon of 40-70 words. These recordings were captured three times during naturalistic interaction and at two consecutive visits with a 2-month interval. Seven thousand three hundred seventy-six productions were analyzed and classified into four communicative intentions (Declaratives, Requests, Objections, and Non-Communicative speech). ASD toddlers were delayed in the emergence of words compared to TD toddlers, with a greater within-group variability (median 28 months, IQR 24.5-35, median 17 months, IQR 17-18, respectively, p < 0.001). In both groups, the most common communicative intention was Declarative. However, the percentage of Declaratives was higher among TD toddlers across visits compared to ASD toddlers. In both groups, most productions were directed toward the communicative partner, but ASD toddlers used Non-Communicative speech more often than TD peers. Non-Communicative speech gradually decreased over time. We conclude that while TD toddlers begin to talk with an already-established knowledge of the main communicative functions of words, ASD toddlers seem to have only a partial understanding and gradually improve communicative use as they expand their lexicon. These findings bear theoretical and practical implications for early intervention in ASD. We suggest that communicative profiles are affected by individual characteristics and by the interaction style.
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Introduction: Non-adherence to efficacious pharmacotherapy is a major obstacle in the treatment of children suffering from attention deficit hyperactive disorder (ADHD). Some hold the position that pharmacotherapy induces anxiety, and that this is one of the reasons for this non-adherence. Previous studies have pointed to the opposite, a moderating effect of methylphenidate (MPH) on state anxiety in patients with ADHD. This has been shown in continuous treatment in children, but not on a single dose. We hypothesized that a single dose might have a different effect. Method: Twenty children with ADHD were given single doses of MPH in a randomized, controlled, crossover, double blind study. State anxiety using The Spielberger State-Trait Anxiety Inventory (STAI) and a continuous performance test were assessed. Results: As a group, no change was detected in state anxiety with MPH or placebo. However, children who were given MPH during the first session as opposed to those who received placebo first, demonstrated deterioration in baseline state anxiety in the second session [t (2.485), p < 0.05]. Conclusion: Our findings show a possible delayed anxiety-provoking effect of a single dose of MPH. This may be relevant to the understanding of difficulties in adherence with MPH treatment in children with ADHD. Clinical Trial Registration: www.ClinicalTrials.gov, identifier: NCT01798459.
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BACKGROUND: The severity of the functional difficulties of children with attention-deficit/hyperactivity disorder (ADHD) is heterogeneous and may be affected by measurable factors. AIMS: To characterize subgroups of children with ADHD with or without sensory modulation difficulties (SMD) and the association between sensory modulation and daily activity function in children with ADHD and children with typical development. METHODS: 38 children with ADHD and 39 controls (ages 8-11) were recruited and assessed, using the Conner's Parent Rating Scale-Revised: Short Form, the Short Sensory Profile (SSP) and the Children Activity Scale for Parents (ChAS-P). RESULTS: The total SSP score of the ADHD group was lower (142.13 vs. 180.08; t=-8.23, p < 0.001) with a higher proportion of SMD (65.8% vs. 2.6%, χ2 = 34.46, p < 0.001). The daily function of children with ADHD was lower than controls (mean ChAS-P: 3.95 vs. 4.78, p < 0.001). The difference was significant for children with ADHD and SMD (3.70 versus 4.81, p < 0.001), but not significant for children with ADHD and typical SSP (4.42 versus 4.81, p=0.35). CONCLUSION: In this pilot study, we found that SMD, in children with ADHD is correlated with daily activity consequences. Hence, it should be evaluated in children with ADHD and addressed in their treatment plan.
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Actividades Cotidianas/psicología , Trastorno por Déficit de Atención con Hiperactividad , Relaciones Interpersonales , Aprendizaje , Sensación , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Niño , Desarrollo Infantil , Femenino , Humanos , Masculino , Escalas de Valoración Psiquiátrica , Umbral Sensorial , Índice de Severidad de la Enfermedad , Habilidades SocialesRESUMEN
OBJECTIVE: We compared performance level and muscle activity patterns during shape copying and tracing in two positions, while sitting at a desk and while standing in front of a wall, between typically developing (TD) preschool children and children with mild disabilities (MD). METHOD: Twenty-two TD children (8 boys, 14 girls; mean [M] age = 5.2 yr, standard deviation [SD] = 0.1) and 13 children with MD (9 boys, 4 girls; M age = 4.9 yr, SD = 0.5) participated in this study. RESULTS: The children performed faster and smoother movements when copying shapes on the vertical surface, with no reduction of accuracy, than on the horizontal surface. Children with MD exerted their upper trapezius while performing the short tasks on the vertical surface compared with their muscle activity on the horizontal surface. CONCLUSION: Incorporating short copying or drawing tasks on a vertical surface may increase the control of proximal muscles and ease graphomotor performance in children with MD.
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Discapacidades del Desarrollo/rehabilitación , Escritura Manual , Destreza Motora , Postura , Preescolar , Femenino , Humanos , Masculino , Terapia Ocupacional , Índice de Severidad de la EnfermedadRESUMEN
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.
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Lenguaje Infantil , Trastornos del Desarrollo del Lenguaje , Pruebas del Lenguaje , Semántica , Niño , Preescolar , Femenino , Humanos , Masculino , FonéticaRESUMEN
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.
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Desarrollo Infantil/fisiología , Dedos/fisiología , Fuerza de la Mano/fisiología , Movimiento/fisiología , Desempeño Psicomotor/fisiología , Factores de Edad , Niño , Preescolar , Femenino , Dedos/inervación , Humanos , Aprendizaje , MasculinoRESUMEN
BACKGROUND: Patient non-attendance is an expensive and persistent problem worldwide with rates between 5-39% reported in the literature. The objective of the study was to assess whether there is a higher incidence of non-attendance in a hospital-based pain clinic during the period of the Jewish High Holidays (Rosh-Hashanah to Sukkot) and whether this is further compounded by other factors, such as demographic characteristics and previous visits to the clinic. METHODS: Records were taken from the Lowenstein Rehabilitation Hospital appointment scheduling system. Data was gathered from two time-periods: High-Holidays and Control for each year, over a total of 6 years 2008-2013. Non-attendance was analyzed by period, by age, by gender and by previous visits to the clinic. RESULTS: In the entire population studied (666 distinct records), the non-attendance rate was higher during the High-Holidays as compared to the Control period (32 vs. 24.1%; p = 0.030). Non-attendance rates were significantly higher during the Holidays among repeating patients (28.6 vs. 14.8%; p = 0.002) and among women (34.6 vs. 20.7%; p = 0.004). DISCUSSION: Our data suggest that non-attendance is elevated during the High-Holidays in specific groups of patients, namely, repeating patients and women. Despite no direct inquiry into the reasons for non-attendance, we speculate that the elevated well-being and familial support during the holidays contribute to the patients' ability to cope with persistent pain and possibly directly reduce the amount of pain, leading to patients missing their pain clinic appointments. CONCLUSION: Our results, provided they can be corroborated by larger-scale studies, can assist in scheduling policy adjustments such as avoidance of appointments during the High-holidays for specific patient populations and more rigorous reminder efforts during these times of the year that may lead to reduction in overall non-attendance rates in the pain clinic. Further, our data provide an impetus for further studies of non-attendance patterns among pain clinic patients, in order to acquire a better understanding of the reasons for non-attendance and develop strategies to reduce it and thus contribute to the continuous improvement of the Israeli health systems as well as others worldwide.
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Vacaciones y Feriados/estadística & datos numéricos , Pacientes no Presentados/estadística & datos numéricos , Clínicas de Dolor/estadística & datos numéricos , Adulto , Anciano , Citas y Horarios , Femenino , Humanos , Israel , Masculino , Persona de Mediana Edad , Clínicas de Dolor/organización & administración , Manejo del Dolor/métodos , Cooperación del Paciente/estadística & datos numéricos , Adulto JovenRESUMEN
PURPOSE: (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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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Evaluación de la Discapacidad , Trastornos de la Destreza Motora/rehabilitación , Desempeño Psicomotor , Juegos de Video , Realidad Virtual , Factores de Edad , Niño , Preescolar , Humanos , Masculino , Destreza Motora , Trastornos de la Destreza Motora/psicología , Percepción , Autoimagen , Autoeficacia , Habilidades SocialesRESUMEN
OBJECTIVE: We hypothesized that patients with ADHD were typified by distress more than by functional difficulties. Thus, a decline in state anxiety while performing a cognitive task when taking methylphenidate would discriminate between ADHD patients and controls. METHOD: State anxiety and cognitive performance on a continuous performance test were assessed in ADHD patients and controls with and without taking methylphenidate. RESULTS: State anxiety and cognitive performance improved from baseline in 36 ADHD adults after taking methylphenidate. In 25 controls, cognitive performance improved, but state anxiety did not abate after a recess. In two additional studies, 5 controls were evaluated at baseline and after receiving methylphenidate, and showed improvement in cognitive assessment but not in state anxiety. Five ADHD adults were assessed at baseline and after a recess, and showed no improvement. CONCLUSION: Our results support the hypothesis that adult ADHD patients are characterized by distress and the relief of this distress under effective therapy as expressed by a decline in state anxiety while they perform a cognitive task.
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Ansiedad/prevención & control , Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Estimulantes del Sistema Nervioso Central/uso terapéutico , Metilfenidato/uso terapéutico , Adulto , Análisis de Varianza , Trastornos de Ansiedad/tratamiento farmacológico , Atención/efectos de los fármacos , Trastorno por Déficit de Atención con Hiperactividad/psicología , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Pruebas Psicológicas , Resultado del TratamientoRESUMEN
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.
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Acetilcolinesterasa/genética , Colágeno/genética , Proteínas Musculares/genética , Síndromes Miasténicos Congénitos/etnología , Síndromes Miasténicos Congénitos/genética , Receptores Nicotínicos/genética , Análisis Mutacional de ADN , Humanos , Irán/etnología , Irak/etnología , Israel/etnología , LinajeRESUMEN
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.
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Enfermedad de Charcot-Marie-Tooth/genética , Consanguinidad , Proteínas del Citoesqueleto/genética , Mutación Missense/genética , Adulto , Alelos , Animales , Encéfalo/diagnóstico por imagen , Enfermedad de Charcot-Marie-Tooth/patología , Niño , Preescolar , Fenómenos Electrofisiológicos , Genotipo , Humanos , Israel , Masculino , Datos de Secuencia Molecular , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple , Alineación de Secuencia , Gemelos DicigóticosRESUMEN
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.
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Trastornos de la Destreza Motora , Destreza Motora , Conducta Social , Niño , Preescolar , Femenino , Humanos , Masculino , Trastornos de la Destreza Motora/diagnóstico , Trastornos de la Destreza Motora/fisiopatología , Trastornos de la Destreza Motora/psicología , Trastornos de la Destreza Motora/rehabilitación , Padres/psicología , Satisfacción del Paciente , Instituciones Académicas , Encuestas y CuestionariosRESUMEN
OBJECTIVES: To test the hypothesis that the number of publications in the field of physical medicine and rehabilitation (PMR) has increased over the last 16 years in a linear fashion, and to compare the trends in publication between the pediatric and adult literature. DESIGN: We evaluated all MEDLINE articles from January 1, 1998, to December 31, 2013, using Medical Subject Headings categories of rehabilitation. An age filter separated adult and pediatric articles. We divided articles into those with a low level of scientific evidence such as letters and editorials, and those with a high level of evidence such as controlled trials and meta-analyses. We used regression analysis to evaluate the effect of the year of publication on the number of publications of each type. SETTING: Not applicable. PARTICIPANTS: Not applicable. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Not applicable. RESULTS: MEDLINE reported a total of 98,501 adult publications and 30,895 pediatric publications during the evaluated period. There was a significant linear increase in the total number of publications in adult and pediatric rehabilitation publications with multiplication factors of 3.3 and 2.9, respectively. Importantly, publications with a high level of evidence showed larger multiplication factors compared with those with a low level of evidence (5.5 and 5.1 vs 2.1 and 2.0) for the adult and pediatric literature. CONCLUSIONS: The number of publications in the PMR field, especially those with a high level of scientific evidence, has increased linearly over the years, reflecting the rapid evolution of both adult and pediatric PMR.
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Bibliometría , Publicaciones Periódicas como Asunto/estadística & datos numéricos , Publicaciones Periódicas como Asunto/tendencias , Medicina Física y Rehabilitación/estadística & datos numéricos , Adulto , Niño , HumanosRESUMEN
BACKGROUND: Several studies have suggested that high levels of computer use are linked to psychopathology. However, there is ambiguity about what should be considered normal or over-use of computers. Furthermore, the nature of the link between computer usage and psychopathology is controversial. The current study utilized the context of age to address these questions. Our hypothesis was that the context of age will be paramount for differentiating normal from excessive use, and that this context will allow a better understanding of the link to psychopathology. METHODS: In a cross-sectional study, 185 parents and children aged 3-18 years were recruited in clinical and community settings. They were asked to fill out questionnaires regarding demographics, functional and academic variables, computer use as well as psychiatric screening questionnaires. Using a regression model, we identified 3 groups of normal-use, over-use and under-use and examined known factors as putative differentiators between the over-users and the other groups. RESULTS: After modeling computer screen time according to age, factors linked to over-use were: decreased socialization (OR 3.24, Confidence interval [CI] 1.23-8.55, p = 0.018), difficulty to disengage from the computer (OR 1.56, CI 1.07-2.28, p = 0.022) and age, though borderline-significant (OR 1.1 each year, CI 0.99-1.22, p = 0.058). While psychopathology was not linked to over-use, post-hoc analysis revealed that the link between increased computer screen time and psychopathology was age-dependent and solidified as age progressed (p = 0.007). Unlike computer usage, the use of small-screens and smartphones was not associated with psychopathology. CONCLUSIONS: The results suggest that computer screen time follows an age-based course. We conclude that differentiating normal from over-use as well as defining over-use as a possible marker for psychiatric difficulties must be performed within the context of age. If verified by additional studies, future research should integrate those views in order to better understand the intricacies of computer over-use.
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Conducta Infantil/psicología , Sistemas de Computación/estadística & datos numéricos , Padres/psicología , Psicopatología , Juegos de Video/psicología , Adolescente , Factores de Edad , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Encuestas y CuestionariosRESUMEN
BACKGROUND: Microdeletions of various sizes in the 2p16.1-p15 chromosomal region have been grouped together under the 2p16.1-p15 microdeletion syndrome. Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. METHODS AND RESULTS: Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of autistic behaviors. Microduplications many times bear milder clinical phenotypes in comparison with corresponding microdeletion syndromes. Indeed, as compared to the microdeletion syndrome patients, the 2p16.1-p15 microduplication seems to have a milder cognitive effect and no effect on other body systems. Limited information available in genetic databases about cases with overlapping duplications indicates that they all have abnormal developmental phenotypes. CONCLUSION: The involvement of genes in this location including BCL11A, USP34 and PEX13, affecting fundamental developmental processes both within and outside the nervous system may explain the clinical features of the individual described in this report.
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Cromosomas Humanos Par 2/genética , Duplicación de Gen/genética , Trastorno Autístico/etiología , Trastorno Autístico/psicología , Proteínas Portadoras/genética , Niño , Preescolar , Mapeo Cromosómico , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/psicología , Discapacidades del Desarrollo/genética , Cabeza/anatomía & histología , Humanos , Recién Nacido , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Masculino , Proteínas de la Membrana/genética , Análisis por Micromatrices , Microcefalia/genética , Proteínas Nucleares/genética , Proteínas Represoras , Síndrome , Proteasas Ubiquitina-Específicas/genéticaRESUMEN
OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: This pilot study supports prosodic changes as possible objective and accessible dynamic biological marker of treatment responses specifically in female ADHD.