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At least 19 recordsLinked to original sources

Medical genetic issues in clinical of pediatric neurology practice:a history of pediatrics in Peking University First Hospital.

The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history. It was established about 60 years ago. After the division of pediatric neurology (DPN) had been established in 1960s, it had been assigned to cover genetic disorders. During the recent 20 years, efforts have been put on three aspects: (1) Pediatric neurology clinical service and education; (2) research studies of childhood epilepsies and pediatric neurogenetic disorders; and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program. In this paper, we reviewed the history of the pediatric neurology division in our department, our clinical and research work and achievements for neurogenetic diseases.

Genetic Techniques↗

[Gastroesophageal reflux in pediatric neurologic patients].

With the aim of evaluating the incidence of gastroesophageal reflux (GER) in neurologic pediatric patients with severe motor and/or psychiatric involvement, a retrospective study of 140 infants followed at the Neuropediatric Unit was realized. Forty-five patients (32.1%) had moderate to severe mental retardation (ms RR), 21 of these patients had associated tetraparetic cerebral palsy (T-CP). The rest of the infants presented variable degrees of neurologic involvement: 25 diplegic (D-CP), 27 hemiparetic (H-CP), 22 with slight mental retardation or borderline IQ without motor deficit (SMR), and 21 had attention deficit disorder with hyperactivity (ADD-H). The diagnosis of GER was based on clinical symptomatology and barium ingestion with fluoroscopy and/or esophagoscopy. GER was confirmed in 27 patients: 19 (90.5%) with T-CP, 6 (25%) with ms-MR and 2 (8%) with D-CP. The rest of the infants did not have GER. There was a very significant difference in the frequency of GER in the T-CP group with respect to the other groups (p < 0.001) and a significant difference in the ms-MR patients with respect to the other groups (p < 0.05). The treatment of GER was surgical in ten patients (37%), after failure of medical treatment in 8; exclusively medical treatment in 10 cases (37%) and postural and dietetic treatment in 7 (26%) patients. Good control of GER, resulting in an improvement in the quality of life, occurred in 90% of the patients treated surgically and only in 55% of the patients treated medically.(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗

Perception of pediatric neurology among non-neurologists.

Pediatric neurology is considered a relatively new and evolving subspecialty. In Saudi Arabia, neurologic disorders in children are common, and the demand for trained pediatric neurologists is strong. The aim was to study the perception of the pediatric neurology specialty among practicing generalists and their referral practices. Attendees of a symposium on pediatric epilepsy comprehensive review for the generalist were included. A structured 25-item questionnaire was designed to examine their demographics, training, practice, and referral patterns. One hundred nineteen participants attended the symposium, and 90 (76%) questionnaires were returned. Attendees' ages were 22 to 70 years (mean 32 years), with 65.5% female physicians. There were 32% consultants, 51% trainees, and 17% students. Most physicians (67%) were practicing general pediatrics. Only 36% received a structured pediatric neurology rotation during training. Children with neurologic complaints constituted 28.5% of those seen in their practice, and they referred 32.5% of them to pediatric neurology. Only 32% were moderately or highly confident in making the diagnosis or providing the appropriate treatment. Those who received a structured pediatric neurology rotation felt more comfortable in their management (P = .03). Many physicians (38.5%) had no direct access to a pediatric neurologist for referrals. To conclude, pediatric neurologic disorders are common in daily practice. Most generalists did not receive a structured neurology rotation during their training and were not highly confident in diagnosing and treating these children. Given the limited number of pediatric neurologists, I highly recommend that generalists receive appropriate neurologic training.

Adult↗

[Iberoamerican Academy of Pediatric Neurology: its history and importance in the development of Iberoamerican child neurology].

The Iberoamerican Academy of Pediatric Neurology (AINP) started in 1992, in Avila (Spain) and was foundated by a group of pediatrics neurologists who organized three post graduate courses in pediatrics neurology, Miami, Margarita and Cancun, with excelents results, because these reason the AINP has growing, fasted its dramatic success has been mostly due to that group of people who love and build unconditionally with their only goal being the satisfaction of knowing that children with neurological disorders will eventually benefit from their work. In this article we wrote about the history of AINP since 1992, and the reason to foundated. The AINP has growing fasted, and we think that it will be very important in the development of pediatrics neurology in Iberoamerica in different ways like neurology education and the training of the young physician.

Academies and Institutes↗

Attitudes of medical students toward pediatric neurology.

Planning strategies to encourage students to pursue a career in pediatric neurology requires assessment of their attitudes and career choices. A structured 30-item questionnaire was designed to examine students' attitudes toward pediatric neurology. In the study, 161 final-year medical students (1999-2000), 20-26 years of age (mean, 23 years of age) were included prospectively. Although most students had been taught by a pediatric neurologist and considered neurologic disorders interesting, 77%-100% had unfavorable attitudes. Although 79% considered pediatric neurology as a future career option, only nine students (6%) selected it as their first choice. Our findings highlight some aspects that might be targeted to promote students' interest in pediatric neurology and improve their learning experiences.

Adult↗

Comparative audit of clinical research in pediatric neurology.

Clinical research involves direct observation or data collection on human subjects. This study was conducted to evaluate the profile of pediatric neurology clinical research over a decade. Trends in pediatric neurology clinical research were documented through a systematic comparative review of articles published in selected journals. Eleven journals (five pediatric neurology, three general neurology, three general pediatrics) were systematically reviewed for articles involving a majority of human subjects less than 18 years of age for the years 1990 and 2000. Three hundred thirty-five clinical research articles in pediatric neurology were identified in the 11 journals for 1990 and 398 for 2000, a 19% increase. A statistically significant increase in analytic design (21.8% vs 39.5%; P = .01), statistical support (6% vs 16.6%; P < .0001), and multidisciplinary team (69.9% vs 87%; P = .003) was observed. In terms of specific study design, a significant decline in case reports (34.3% vs 10.3%; P < .0001) and an increase in case-control studies (11.3% vs 22.9%; P = .02) were evident over the 10-year interval. This comparative audit revealed that there has been a discernible change in the methodology profile of clinical research in child neurology over a decade. Trends apparently suggest a more rigorous approach to study design and investigation in this field.

Biomedical Research↗

Inventory of pediatric neurology "manpower" in Canada.

OBJECTIVE: To review the demographics and workload characteristics of pediatric neurology in Canada. METHOD: A standardized survey questionnaire was mailed out to practicing pediatric neurologists in Canada in 2001. Variables examined were age, gender, hours on call, regular hours worked per week, type of practice and projected changes in practice over next five to ten years. Results were compared to the 1994 Pediatric Neurology Manpower Survey which had used the same survey instrument. RESULTS: Fifty-six (70%) pediatric neurologists practicing in Canada returned the survey. As was the case in 1994, no significant differences in workload were found based on age or gender. The average age of the practicing pediatric neurologist in 2001 was 51 years compared to 45 years in 1994. The proportion of physicians over 55 years in 2001 was 35% compared to 25% in 1994. CONCLUSIONS: Pediatric neurology in Canada is an aging specialty needing a significant recruitment of new members

Adult↗

[Progress in pediatric neurology].

A central part of Pediatric Neurology is currently dominated by the search for genetic factors involved in developmental disorders of the nervous system, including cases where the cytogenetic examination remains uncontributive. The prerequisite for a good definition of the malformative phenotypes leads to distinguish: 1 cerebral malformations that can be identified at the macroscopic scale, by imaging. 2 polymalformative syndromes including mental retardation where cerebral imaging is not contributive, thus the syndromatic definition is based on associated somatic anomalies. 3 Non-syndromatic mental retardation, where a genetic origin is clear only in the familial forms. Various methodological approaches have included genetic linkage studies, search for inframicroscopic chromosomal rearrangements in the critical region and investigation of candidate genes. A great number of syndromes have been connected with a great diversity of genetic mechanisms, whose many examples are presented: genopathies with regular or variable expression, unstable mutations, contiguous gene syndromes or other complex infracytogenetic rearrangements, chromosomal or genic mosaicisms, mutations submitted to parental imprinting. New methods of genomic screening will be necessary to progress in this field, given the great number of genes involved in cerebral development. As for the early developmental disorders of the PNS and muscle, their diagnosis becomes frequent during the intrauterine life, raising the problem of a better definition of the fetopathological phenotypes.

Abnormalities, Multiple↗

[Pediatric neurology and genetics: introduction].

INTRODUCTION: Heredity plays a role in a large proportion of pediatric neurologic disorders, and the spectacular recent developments in molecular genetics have contributed to improved understanding of the basic causes of many diseases and neurodevelopmental abnormalities. OBJECTIVE: To provide a brief introduction to certain genetic aspects of neuropediatrics. DEVELOPMENT: We consider the following aspects: 1) The importance of hereditary factors in pediatric neurology; 2) The different types of inheritance relevant in this context; 3) Nosologic, diagnostic and therapeutic implications of recent advances in molecular genetics; 4) Bioethical implications of the application of this new understanding. CONCLUSIONS: Independently of enhanced treatment prospects, progress in molecular genetics has improved the nosology and diagnosis of many pediatric neurological disorders.

Genetics↗