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1.
Phys Occup Ther Pediatr ; 37(5): 457-467, 2017 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-28071977

RESUMEN

AIM: To investigate the effects of touch-screen tablet use on the fine motor development of preschool children without developmental delay. METHODS: 40 children who used a touch-screen tablet more 60 minutes per week for at least 1 month received a 24-week home fine motor activity program using a touch-screen-tablet. 40 children matched for age (mean = 61.0 months) and sex who did not meet the criteria for previous tablet use received a 24-week program consisting of manual play activities. Motor performance was measured using the Bruininks-Oseretsky Test of Motor Proficiency. The two-factor mixed design ANOVA was used to compare performance of the touch-screen tablet and non-touch-screen tablet groups. RESULTS: Pretest analysis showed no group differences in motor performance and pinch strength. At posttest, children in the nontouch-screen-tablet group made significantly greater changes in fine motor precision (p < 0.001), fine motor integration (p = 0.008), and manual dexterity (p = 0.003). CONCLUSION: Using a touch screen tablet extensively might be disadvantageous for the fine motor development of preschool children.


Asunto(s)
Desarrollo Infantil , Computadoras de Mano , Destreza Motora/fisiología , Preescolar , Femenino , Humanos , Masculino , Fuerza de Pellizco/fisiología
2.
Aust Occup Ther J ; 64(1): 49-57, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27427505

RESUMEN

BACKGROUND/AIM: Participation in physical activity is an important health concern for children in most Western communities, but little is known about Asian children's participation. The purpose of this study was to extend the current knowledge on how much time preschool children in Taiwan spend on physical activity, to examine its relationship with gross motor performance and to provide information on the establishment of physical activity guidelines for preschool children in Taiwan. METHODS: Two hundred and sixty-four children between 36 and 71 months old were recruited from a university medical centre and from preschools in Taiwan. The primary outcomes were measured using the Movement Assessment Battery for Children-Second Edition and the modified Preschool-aged Children's Physical Activity Questionnaire. RESULTS: 89.8% of our participants did not meet the recommendations from the National Association for Sport and Physical Education for time spent in physical activities. Participants spent an average of 155 minutes/week in low intensity physical activity. Children with motor difficulties tended to spend less time on physical activity than did typically developing children. The mother's level of education and whether the child was overweight or obese correlated with how much time the children spent on physical activity. CONCLUSIONS: We conclude that paediatric occupational therapists should explain to parents the relationship between physical activity and motor development and advocate for developmentally positive physical activities for preschool children. Physical activity guidelines for Taiwanese preschoolers should be established immediately.


Asunto(s)
Peso Corporal/fisiología , Ejercicio Físico/fisiología , Destreza Motora/fisiología , Terapia Ocupacional , Preescolar , Escolaridad , Femenino , Humanos , Masculino , Factores Sexuales , Factores Socioeconómicos , Taiwán , Factores de Tiempo
3.
J Formos Med Assoc ; 113(11): 857-61, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25443352

RESUMEN

The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in the blood and cerebrospinal fluid; electroencephalography showed severely suppressed cerebral activity and focal paroxysmal volleys of slow and sharp waves (< 1Hz) over the left hemisphere. Real-time transcranial Doppler ultrasonography showed a brain edema and high peaked systolic and low diastolic flows in basal, anterior, and middle cerebral arteries; however, immediately after a blood exchange transfusion, systolic flows were lower and diastolic flows were higher. The resistance indices were significantly different (means: 0.58 vs. 0.37; p=0.01). The patient was placed on diet therapy. After six blood exchange transfusions and peritoneal dialysis, her neurologic examination results and serum ammonia and lactate values were normal. The authors found that electroencephalography and transcranial Doppler ultrasonography were useful for the diagnosis and follow-up treatment of neonatal citrullinemia.


Asunto(s)
Argininosuccinato Sintasa/genética , Citrulinemia/diagnóstico , Electroencefalografía , Hiperamonemia/diagnóstico , Ultrasonografía Doppler Transcraneal , Transfusión Sanguínea , Citrulinemia/terapia , Femenino , Humanos , Hiperamonemia/terapia , Recién Nacido , Mutación
4.
Phys Occup Ther Pediatr ; 34(4): 356-67, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24865120

RESUMEN

Improving parent-child interaction and play are important outcomes for children with autism spectrum disorder (ASD). Play is the primary occupation of children. In this pilot study conducted in Taiwan, we investigated the effects of the developmental, individual difference, and relationship-based (DIR)/Floortime home-based intervention program on social interaction and adaptive functioning of children with ASD. The participants were 11 children with ASD, ages from 45-69 months, and their mothers. Mothers were instructed the principles of the approach by an occupational therapist. All 11 children and their mothers completed the 10-week home-based intervention program, undergoing an average of 109.7 hr of intervention. Children made significant changes in mean scores for emotional functioning, communication, and daily living skills. Moreover, the mothers perceived positive changes in their parent-child interactions. The findings of this pilot study contribute to knowledge regarding the effects of home-based DIR/Floortime intervention program on increasing the social interaction and adaptive behaviors of children with ASD in Taiwan.


Asunto(s)
Conducta Infantil , Trastornos Generalizados del Desarrollo Infantil/rehabilitación , Relaciones Madre-Hijo , Madres/educación , Ludoterapia/métodos , Actividades Cotidianas , Adulto , Niño , Trastornos Generalizados del Desarrollo Infantil/psicología , Preescolar , Comunicación , Emociones , Femenino , Humanos , Masculino , Madres/psicología , Percepción , Proyectos Piloto , Juego e Implementos de Juego
5.
Pediatr Int ; 55(1): 24-9, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23163694

RESUMEN

BACKGROUND: The aims of this study were: (i) to determine whether differences exist in the fine motor fluency and flexibility of three groups (children with attention-deficit/hyperactivity disorder [ADHD], children in whom ADHD is comorbid with developmental coordination disorder [DCD] [denoted as ADHD+DCD], and a typically developing control group); and (ii) to clarify whether the degree of severity of core symptoms affects performance. METHODS: The Peabody Picture Vocabulary Test-Revised, the Beery-Buktenica Development Test of Visual-Motor Integration and the Movement Assessment Battery for Children were used as prescreening tests. The Integrated Visual and Auditory+Plus test was utilized to assess subjects' attention. The redesigned fine motor tracking and pursuit tasks were administered to evaluate subjects' fine motor performance. RESULTS: No significant difference was found when comparing the performance of the Children with ADHD and the typically developing group. Significant differences existed between children in whom ADHD is comorbid with DCD and typically developing children. CONCLUSIONS: Children with ADHD demonstrated proper fine motor fluency and flexibility, and deficient performance occurred when ADHD was comorbid with developmental coordination disorder. Children with ADHD had more difficulty implementing closed-loop movements that required higher levels of cognitive processing than those of their typically developing peers. Also, deficits in fine motor control were more pronounced when ADHD was combined with movement coordination problems. The severity of core symptoms had a greater effect on children with ADHD's fine motor flexibility than did fluency performance. In children with pure ADHD, unsmooth movement performance was highly related to the severity of core symptoms.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastornos de la Destreza Motora/complicaciones , Destreza Motora , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Fenómenos Biomecánicos , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Trastornos de la Destreza Motora/psicología , Pruebas Psicológicas , Índice de Severidad de la Enfermedad , Análisis y Desempeño de Tareas
6.
Brain Cogn ; 69(2): 236-44, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18762360

RESUMEN

This study was designed to investigate separately the inhibitory response capacity and the lateralization effect in children with developmental coordination disorder (DCD) in the endogenous and exogenous modes of orienting attention. Children with DCD on the lower extremities (DCD-LEs), along with age-matched controls, completed four tasks that involved various applications of asynchronous stimuli to the feet or hands at various intervals. The results demonstrated that children with DCD-LEs had a significantly longer reaction time than the controls for all tasks, and were not alert to the appearance of the target. However, they displayed a deficit in volitional shifts of attention (endogenous mode), but not in automatic dislocation of attention (exogenous mode), whenever they performed the tasks with either their lower or their upper-limbs-even 6 months after the initial study. These findings confirm the deficit in the inhibitory response capacity in terms of volitional movement of attention by children with DCD. Additionally, the negative effect of lateralization on the bilateral extremities was not present in children with DCD-LEs. Significantly differences in response ability were detected only between the dominant and non-dominant sides of upper-limbs, but not between the lower-limbs, suggesting a future avenue for further experimentation on bilateral extremities.


Asunto(s)
Atención , Extremidad Inferior , Trastornos de la Destreza Motora/psicología , Extremidad Superior , Niño , Femenino , Pie , Mano , Humanos , Masculino , Destreza Motora , Movimiento , Orientación , Tiempo de Reacción , Análisis y Desempeño de Tareas
7.
Brain Dev ; 30(8): 527-32, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18295996

RESUMEN

PURPOSE: To investigate the seizure precipitants in children with intractable epilepsy, and to determine any distinctive clinical features contributing to seizures in these patients. METHODS: A questionnaire and seizure diary prepared by the parents of the patients. Demographic and seizure data were reviewed. RESULTS: Of 120 patients with intractable epilepsy, 74 (62%) had one (n=43), two (n=23), or three seizure precipitants (n=8). The three most common precipitants were illness or fever (32%), sleep deprivation (13%), and menstruation (10%). Of these precipitants, inducing factors (endogenous origin) were more common than triggering factors (exogenous origin): 73% versus 27%, respectively. Three distinctive clinical features - neurological abnormalities (P=0.01), status epilepticus (P=0.017), and abnormal neuroimaging (P=0.007) - were significantly more common in patients with than in patients without precipitants. CONCLUSIONS: Prompt recognition and management of seizure precipitants has practical implications for treating patients with refractory epilepsy. Such patients can be counseled to avoid specific precipitants.


Asunto(s)
Epilepsia/fisiopatología , Convulsiones/epidemiología , Convulsiones/prevención & control , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Electroencefalografía , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Masculino , Factores de Riesgo , Convulsiones/tratamiento farmacológico , Convulsiones/fisiopatología , Encuestas y Cuestionarios
8.
Hum Mov Sci ; 26(6): 913-26, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17640753

RESUMEN

Maintenance of standing balance requires that sensory inputs be organized with the motor system. Current data regarding the influence of sensory inputs on standing balance in children with developmental coordination disorder (DCD) are limited. This study compared the influence of sensory organization and each sensory input on the standing stability between a group of 20 children, 4-6 years old, with DCD and an age- and gender-matched control group of 20 children. Three types of visual inputs (eyes open, eyes closed, or unreliable vision) and two types of somatosensory inputs (fixed or compliant foot support) were varied factorially to yield six sensory conditions. Standing stability was measured with a Kistler force plate for 30s and expressed as the center of pressure sway area. The results showed that the standing stability of the children with DCD was significantly poorer than that of the control children under all sensory conditions, especially when the somatosensory input was unreliable (compliant foot support) compared to when it was reliable (fixed foot support). The effectiveness of an individual sensory system, when it was the dominant source of sensory input, did not significantly differ between the groups. The results suggest that children with DCD experience more difficulty coping with altered sensory inputs, and that such difficulty is more likely due to a deficit in sensory organization rather than compromised effectiveness of individual sensory systems.


Asunto(s)
Trastornos de la Destreza Motora/diagnóstico , Trastornos de la Destreza Motora/epidemiología , Postura , Trastornos de la Sensación/epidemiología , Adaptación Psicológica , Niño , Preescolar , Femenino , Humanos , Masculino
9.
Acta Paediatr Taiwan ; 48(4): 181-5, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18265537

RESUMEN

BACKGROUND: Childhood epilepsy is commonly associated with behavioral problems. In this study, we used the Child Behavior Checklist (CBCL) to determine a behavioral profile for children with chronic epilepsy. METHODS: Fifty-six children with epilepsy and 45 aged-matched healthy controls were evaluated by analyzing the clinical variables of all study participants. Scores of the CBCL were markedly higher in patients than those in healthy controls for both internalizing and externalizing behaviors, which consisted of subscales of aggressive behavior, anxiety/depression, attention problems, thought problems, withdrawal, and somatic complaints. RESULTS: We found behavioral disturbances in 42% (n=24) of the epileptic patients and in 8% (n=4) of the controls. No significant differences were found between patients with and without behavioral problems on the clinical variables. CONCLUSIONS: Behavioral problems deserve special attention in children with epilepsy. CBCL can be used as a screening instrument with these children.


Asunto(s)
Trastornos de la Conducta Infantil/diagnóstico , Conducta Infantil , Epilepsia/psicología , Niño , Femenino , Humanos , Masculino
10.
Acta Paediatr Taiwan ; 48(3): 112-8, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17912981

RESUMEN

BACKGROUND: The present study aimed to elucidate the clinical characteristics and outcomes of three types of occipital epileptic syndromes: early-onset and late-onset childhood epilepsy with occipital paroxysm (ECEOP and LCEOP) and symptomatic occipital epilepsy (SOLE). METHODS: We retrospectively reviewed the medical records of 54 children (18 ECEOP, 10 LCEOP, and 26 SOLE) and compared the clinical features, EEG findings, treatments, and outcomes among these patients. RESULTS: Nocturnal seizures occurred in 55% of the patients with ECEOP, whereas of those with LCEOP and SOLE, 80% and 61% had diurnal seizures, respectively (P = 0.04). Status epilepticus was more common in the ECEOP group, less in LCEOP. Autonomic auras were more common in the SOLE group than in the other two groups. Secondary generalized seizure was often found in the SOLE group (P = 0.03). EEG findings in 72% of the ECEOP group, 60% of the LCEOP group, and 19.2% in the SOLE group were changeable and became to be normal after 5 years of follow-up. Slow EEG background activity was more evident in the SOLE group than in the other two groups. The prognoses of these groups of patients were different. The ECEOP group had the best, and the SOLE group had the worst. CONCLUSIONS: These findings suggest that some clinical features of these three syndromes differ from each other, which may provide clinicians a basis for determining the appropriate diagnosis in children with one of these childhood occipital epileptic syndromes.


Asunto(s)
Epilepsias Parciales/clasificación , Adolescente , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/fisiopatología , Femenino , Humanos , Masculino , Pronóstico , Estudios Retrospectivos
11.
Acta Paediatr Taiwan ; 48(4): 217-9, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18265544

RESUMEN

A 10-month-old boy presented with gross motor delay and muscle weakness, especially in both lower limbs. At age 5, he developed lordosis, talipes, and planovalgus. His grandmother died of malignant hyperthermia during surgery. On neurological examination, he had mild proximal muscle weakness and atrophy, decreased deep tendon reflexes and Gowers' sign, but his intelligence was normal. The electromyogram showed myopathic pattern. Muscle biopsy revealed type 1 fiber atrophy and central core abnormalities. We report this case of central core disease with a family history of malignant hyperthermia during surgery.


Asunto(s)
Hipertermia Maligna/genética , Miopatía del Núcleo Central/genética , Preescolar , Humanos , Masculino , Miopatía del Núcleo Central/patología , Miopatía del Núcleo Central/fisiopatología
12.
Pediatr Neonatol ; 58(4): 338-343, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28087260

RESUMEN

BACKGROUND: We wanted to identify in children with epilepsy the factors associated with seizure control and recurrence after a 2-year remission. METHODS: We did a 5-year follow-up of epileptic children whose antiepileptic medication had been stopped. Bivariate and multivariate analyses were used to compare features of electroencephalograms (EEGs) and clinical findings. In this study, 43 patients with and 64 without a seizure recurrence (SR) were enrolled. RESULTS: Clinical features strongly associated with SR in the univariate analysis included a symptomatic etiology for seizures, a history of status epilepticus, treatment duration before stopping antiepileptic drugs, and abnormal EEG findings at the time of stopping antiepileptic drugs. CONCLUSION: We found that a history of status epilepticus, symptomatic partial epilepsy, treatment duration before stopping antiepileptic drugs, and an abnormal EEG when the medication was stopped are important predictors of SR. The risk factors of SR after discontinuing antiepileptic drugs have been investigated in several studies. However, a history of status epilepticus as a predictive factor is rarely mentioned.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Convulsiones/tratamiento farmacológico , Adolescente , Niño , Preescolar , Electroencefalografía , Epilepsia/etiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Análisis Multivariante , Recurrencia , Factores de Riesgo , Convulsiones/etiología , Estado Epiléptico/complicaciones
13.
J Child Neurol ; 21(12): 1047-51, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17156696

RESUMEN

The goal of this study was to clarify the clinical characteristics and prognostic factors of childhood postencephalitic epilepsy. Forty-four patients (20 boys and 24 girls; age range 21 months to 17 years, mean age 8.1 +/- 4.6 years) with postencephalitic epilepsy were selected from the 798 epileptic children treated and followed up at our hospital between 1993 and 2003. The clinical data included clinical features, electroencephalograms (EEGs), and neuroimages, all reviewed and analyzed retrospectively. Based on their post-treatment seizure outcomes, the children were divided into favorable (n = 20) and poor outcome groups (n = 24). Between the two groups, the age at encephalitis, cerebrospinal fluid findings, and seizure type were comparable. Factors indicating a poor prognosis for these patients during the acute phase of encephalitis were (1) status epilepticus occurring as the first seizure (P < .005), (2) slow background activity (P < .001) and multifocal spike discharges on EEGs (P < .01), and (3) herpes simplex viral encephalitis (P < .01). Our findings indicated that patients with status epilepticus and multifocal spikes on EEG during acute encephalitis have an increased risk of developing intractable epilepsy. To improve the outcome of postencephalitic epilepsy, intervention must occur earlier in the encephalitis stage.


Asunto(s)
Encéfalo/fisiopatología , Encefalitis/complicaciones , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Potenciales de Acción/fisiología , Adolescente , Edad de Inicio , Encéfalo/patología , Proteínas del Líquido Cefalorraquídeo/análisis , Proteínas del Líquido Cefalorraquídeo/metabolismo , Niño , Preescolar , Diagnóstico Precoz , Electroencefalografía , Encefalitis/etiología , Encefalitis por Herpes Simple/complicaciones , Epilepsia/etiología , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Estado Epiléptico/diagnóstico , Estado Epiléptico/etiología , Estado Epiléptico/fisiopatología
14.
Infant Behav Dev ; 38: 20-6, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25544743

RESUMEN

BACKGROUND: Literature addressing the effects of television exposure on developmental skills of young children less than 36 months of age is scarce. This study explored how much time young children spend viewing television and investigated its effects on cognitive, language, and motor developmental skills. METHODS: Data were collected from the Pediatric Clinics at University Medical Center in Southern Taiwan. The participants comprised 75 children who were frequently exposed to television and 75 children who were not or infrequently exposed to television between 15 and 35 months old. The age and sex were matched in the two groups. The Bayley Scales of Infant Development-second edition and Peabody Developmental Motor Scales-second edition were used to identify developmental skills. Independent t-tests, χ(2) tests, and logistic regression models were conducted. RESULTS: Among 75 children who were frequently exposed to television, young children watched a daily average of 67.4 min of television before age 2, which was excessive according to the American Academy of Pediatrics. Viewing television increased the risk of delayed cognitive, language, and motor development in children who were frequently exposed to television. Cognitive, language, and motor delays in young children were significantly associated with how much time they spent viewing television. The type of care providers was critical in determining the television-viewing time of children. CONCLUSION: We recommend that pediatric practitioners explain the impacts of television exposure to parents and caregivers to ensure cognitive, language, and motor development in young children. Advocacy efforts must address the fact that allowing young children to spend excessive time viewing television can be developmentally detrimental.


Asunto(s)
Trastornos del Conocimiento/etiología , Discapacidades del Desarrollo/etiología , Trastornos del Desarrollo del Lenguaje/etiología , Televisión , Niño , Preescolar , Trastornos del Conocimiento/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Femenino , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/diagnóstico , Masculino , Destreza Motora , Factores de Riesgo , Factores de Tiempo
15.
Int J Pediatr Otorhinolaryngol ; 68(9): 1185-8, 2004 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-15302150

RESUMEN

OBJECTIVE: Mental function is considered to affect the post-operative outcomes of deaf children with cochlear implants. The purpose of this study is to evaluate the effect of mental function on the auditory performance in children with cochlear implants. METHODS: In a retrospective review of data, 26 pre-lingual deafened children received pre-operative evaluation of mental function and were divided into normal and retarded groups. Categories of auditory performance scale (CAP) was conducted at 1-year intervals after implantation. ANCOVA was used for statistic analysis. RESULTS: The average scores of auditory performance in normal group (n=14) were 3.93 (S.D. 1.07) and 5.86 (S.D. 0.95) at 1- and 2-year post-implantation. While the average scores in the retarded group were 2.5 (S.D. 1.51) and 4.17 (S.D. 1.85), both groups demonstrated obvious improvement in speech perception (F 103.12, P<0.001) during the first 2 post-operative years. The auditory performance in the normal group was significantly superior to the retarded group (F 8.67, P<0.01). However, the interaction between the duration of the device use and mental status showed no significant difference in the auditory perception performance (F 1.575, P=0.222). CONCLUSIONS: The results revealed the mental function plays as one of the predictive parameters of auditory performance in profoundly hearing impaired children after cochlear implantation.


Asunto(s)
Implantación Coclear , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/epidemiología , Sordera/cirugía , Trastornos del Habla/diagnóstico , Trastornos del Habla/epidemiología , Percepción del Habla , Niño , Sordera/diagnóstico , Femenino , Estado de Salud , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Masculino , Pruebas Neuropsicológicas , Cuidados Preoperatorios , Prevalencia , Estudios Retrospectivos , Índice de Severidad de la Enfermedad
16.
J Formos Med Assoc ; 101(7): 488-94, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12353341

RESUMEN

BACKGROUND AND PURPOSE: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are associated with distinct phenotypes that include mental retardation. Both PWS and AS are caused by loss of function of genes located in chromosome 15q11-q13, an area subject to genomic imprinting. Methylation-specific polymerase chain reaction (M-PCR), based on parent of origin specific DNA methylation at the promoter region of the small nuclear ribonucleoprotein polypeptide N gene (SNRPN), can provide accurate and rapid diagnosis for nearly all PWS patients while it is less accurate for AS patients. We report the development of a referral system for molecular diagnosis of PWS and AS based on M-PCR. METHODS: Pediatric geneticists, psychiatrists, or neurologists were asked to evaluate phenotypes of patients with PWS or AS and complete a questionnaire designed according to the consensus criteria to diagnose these conditions. Molecular analysis based on M-PCR was performed for patients with a score of at least two. RESULTS: A total of 108 patients with suspected PWS and 20 patients with suspected AS were referred for diagnostic testing. PWS was diagnosed in 26 of these patients and AS in two. Among the major diagnostic criteria for PWS, excessive weight gain, developmental delay, and hyperphagia were more prevalent in older patients (> or = 1 yr) than in younger patients. Cerebral hypotonia and developmental delay were significantly more prevalent in older PWS patients than in non-PWS patients. CONCLUSION: M-PCR is a cost-effective method for the diagnosis of PWS and AS. The limitations of current scoring systems and the low cost of M-PCR suggest that routine molecular screening is justified for patients suspected of having PWS.


Asunto(s)
Síndrome de Angelman/diagnóstico , Metilación de ADN , Reacción en Cadena de la Polimerasa/métodos , Síndrome de Prader-Willi/diagnóstico , Derivación y Consulta , Adolescente , Adulto , Síndrome de Angelman/genética , Niño , Preescolar , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Persona de Mediana Edad , Síndrome de Prader-Willi/genética
17.
Acta Paediatr Taiwan ; 44(6): 356-9, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14983658

RESUMEN

We describe a 4-year-old boy with Sjögren-Larsson syndrome (SLS). Clinical neurophysiological studies, including electroencephalography (EEG) and brainstem auditory evoked potential (BAEP), visual evoked potentials (VEP), and short-latency somatosensory evoked potential (SSEP) tests, were performed. The results of multimodality evoked potential tests suggested that SLS may involve dysfunction of various sensory pathways.


Asunto(s)
Síndrome de Sjögren-Larsson/fisiopatología , Preescolar , Electroencefalografía , Potenciales Evocados Auditivos del Tronco Encefálico , Potenciales Evocados Somatosensoriales , Potenciales Evocados Visuales , Humanos
18.
Res Dev Disabil ; 35(1): 162-70, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24210644

RESUMEN

The purpose of this study was to determine the intra- and inter-rater reliability of classifying the movement patterns of rising from supine to stand in the children with typical development (TD) and mild to moderate developmental delay (DD). Sixty-eight children with TD and 20 children with DD aged 2 through 6 years were videotaped during rising. Two trained pediatric physical therapists independently viewed each videotape and classified the movement patterns of upper extremities (UE), trunk/axial (AX) and lower extremities (LE) regions using descriptive categories developed by previous researchers. Kappa statistic and average percentage of agreement were calculated to determine reliability. The average agreement rate of intra-rater ranged from 90% to 97% in TD group for three regions, and 79% to 89% in DD group; the agreement rate between raters ranged from 82% to 95% in TD group for three regions, and 71% to 87% in DD group. Using kappa statistic guidelines, high intra- and inter-rater reliabilities (k>0.81) were found in TD group, except inter-rater reliability for LE. Substantial intra- and inter-reliabilities (0.61

Asunto(s)
Desarrollo Infantil/fisiología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Actividad Motora/fisiología , Examen Físico/estadística & datos numéricos , Examen Físico/normas , Factores de Edad , Niño , Preescolar , Humanos , Movimiento/fisiología , Variaciones Dependientes del Observador , Pediatría , Fisioterapeutas , Reproducibilidad de los Resultados , Posición Supina/fisiología , Grabación de Cinta de Video
19.
Res Dev Disabil ; 35(9): 2205-14, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24922596

RESUMEN

The purposes of this study were to determine (1) movement patterns and strategies of children with mild to moderate developmental delay (DD) used to rise up and how they differ from those used by age-matched children with typical development (TD), (2) whether the movement patterns differ with age in children with DD, and (3) to determine the developmental sequences for the UE, AX and LE in children with DD and whether they are different from those used by children with TD. Sixty six children with TD and 31 children with DD aged two to six years were recruited. Peabody Developmental Motor Scale II (PDMS-2) was used to determine the motor performance level. The participants were recorded during rising for at least five repetitions. Two trained pediatric physical therapists viewed each video recording and classified the movement patterns of the upper extremities (UE), trunk/axial (AX) and lower extremities (LE) regions using descriptive categories developed by previous researchers. The DD and TD groups were further divided into four subgroups each using a one-year interval. The percentage of occurrence of the each UE, AX and LE movement was determined and compared across subgroups, and between each age-matched pair of TD and DD groups. The results demonstrated that the participants in the TD group clearly followed the proposed developmental sequence and the children with DD followed the developmental sequences but with different maturation speeds and greater variability, especially at the age of three to five years. The most common movement patterns used by the children in each of the DD subgroups were at least one developmental categorical pattern behind those used by the age-matched children with TD before five years old, except for the LE region. In the DD group, the movement patterns had moderate to high correlation with the child's motor performance level, indicating that the children with better motor performances used more developmentally advanced patterns in comparison with those with lower scores. However, besides motor maturity, numerous other intrinsic/extrinsic factors may affect the child's performance of this task. The information obtained in this study would assist therapists when working with the children with DD, so that they can provide individualized treatment rather than guiding all such children toward a single, mature pattern.


Asunto(s)
Discapacidades del Desarrollo/fisiopatología , Destreza Motora/fisiología , Movimiento/fisiología , Posición Supina/fisiología , Factores de Edad , Fenómenos Biomecánicos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino
20.
J Child Neurol ; 29(12): 1660-3, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24352160

RESUMEN

The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, including the degree of intellectual disability/developmental delay (P = .002) and seizure frequency (P = .02) after adequate treatment. Intellectual disability was more prevalent in children with a first seizure at 0 to 3 years old (P = .002), and seizures were more frequent in those with a first seizure at 0 to 6 years old than at 7 to 16 years old (P = .026). For pediatric cryptogenic frontal lobe epilepsy, the age at first seizure is important and inversely correlated with outcome, including seizure frequency and intellectual disability.


Asunto(s)
Discapacidades del Desarrollo/etiología , Epilepsia del Lóbulo Frontal , Discapacidad Intelectual/etiología , Adolescente , Análisis de Varianza , Niño , Preescolar , Electroencefalografía , Epilepsia del Lóbulo Frontal/complicaciones , Epilepsia del Lóbulo Frontal/diagnóstico , Epilepsia del Lóbulo Frontal/psicología , Femenino , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Masculino , Pediatría , Pronóstico , Análisis de Regresión , Estudios Retrospectivos
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