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BACKGROUND AND OBJECTIVES: Epilepsy is considered one of the most prevalent causes of morbidity in children. The aim of this study is to determine how epilepsy impacts the lives of children with epilepsy and their families. METHODS: A translated version of the "Impact of Pediatric Epilepsy Scale" (IPES) questionnaire was completed by the 80 mothers of children with epilepsy, recruited at three hospitals in Jeddah, Saudi Arabia This is a validated self-administered questionnaire used to assess the impact of epilepsy on the lives of the child and family, as well as the quality of life (QoL) of the child. RESULTS: The mean age of children epilepsy was 6.32 years (SD = 3.22). The mean IPES score was 6.28 (SD = 8.42) and the mean child's QoL was 2.85 (SD= 0.83). 87.5% of the mothers rated their child's QoL as low. IPES score was significantly associated with cause of seizure (ß=0.259; 95%-CI= 0.263 - 10.334; p = 0.039). Child's QoL was significantly associated with frequency of seizure (ß=0.251; 95%-CI= 0.016 - 0.568; p= 0.039) and child's nationality (ß=-0.270; 95%-CI -0.252, -0.013; p= 0.031). CONCLUSIONS: Pediatric epilepsy may have a greater impact on the lives of the child and the family when it is not comorbid with cerebral palsy. Quality of life tends to be lower for non-Saudi children, and children with more frequent seizures. Therefore, these groups may need more support in managing the impact that epilepsy has on their daily functioning and quality of life.
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BACKGROUND: The seizure threshold 2 (SZT2) gene encodes a protein of unknown function, which is widely expressed, confers a low seizure threshold, and enhances epileptogenesis. It also comprises the KICSTOR protein complex, which inhibits the mTORC1 pathway. A pathogenic variant in the SZT2 gene could result in hyperactive mTORC1 signaling, which can lead to several neurological disorders. AIM OF THE STUDY: To review every reported case and present two novel cases to expand the current knowledge and understanding of the mutation. METHODS: Whole exome sequencing (WES) was used to identify the novel cases and present their clinical and radiological findings. A detailed revision of the literature was conducted to illustrate and compare findings. The clinical, genetical, neuroimaging, and electrophysiological data were extracted. RESULTS: The study included 16 female patients and 13 male patients in addition to the 2 novel male cases. Eighteen patients had heterozygous mutations; others were homozygous. The majority presented with facial dysmorphism (n = 22). Seizures were noted as the predominant hallmark (n = 26). Developmental delay and hypotonia were reported in 27 and 15 patients, respectively. The majority of patients had multifocal epileptiform discharges on the electroencephalogram (EEG) and short and thick corpus callosum on the magnetic resonance imaging (MRI). CONCLUSION: Several promising features are becoming strongly linked to patients with SZT2 mutations. High variability among the cases was observed. Developmental delay and facial dysmorphism can be investigated as potential hallmarks; aiding clinicians in diagnosing the condition and optimizing management plans.
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BACKGROUND: Osteomalacia is an uncommon cause of muscle weakness. Our objectives were to describe features of myopathy associated with Vitamin D deficiency and examine the contributing factors leading to osteomalacic myopathy in our region. METHODS: Patients identified retrospectively for the six year period ending in December 2006 with the diagnosis of osteomalacia and/or Vitamin D deficiency associated proximal muscle weakness were included. They were followed in three major centers in western Saudi Arabia. Clinical, biochemical, radiological, and electrophysiological findings were collected before and after Vitamin D treatment by chart review. RESULTS: Forty seven female patients aged 13-46 years (mean 23.5, SD 4.5) were included. All were veiled and covered heavily when outside the house for social and cultural reasons. Only eight (17%) had adequate varied diet with daily milk ingestion. All patients presented with progressive proximal muscle weakness lasting 6-24 months (mean 14) prior to our evaluation. The weakness was severe in six (13%) patients leading to wheel chair bound states. Associated musculoskeletal pain involving the back, hips, or lower limbs was common (66%). Osteomalcia was the referral diagnosis in only 11 patients and the remaining 36 (77%) patients were misdiagnosed. All patients had metabolic and radiological profiles suggestive of osteomalacia. Remarkable recovery was documented in all patients following oral cholecalciferol and calcium supplementation. CONCLUSIONS: Vitamin D deficiency is an important treatable cause of osteomalacic myopathy in Saudi Arabia. The diagnosis is frequently delayed or missed. Screening for Vitamin D deficiency in patients with acquired myopathy is needed to identify this treatable disorder.
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Enfermedades Musculares/tratamiento farmacológico , Enfermedades Musculares/etiología , Recuperación de la Función/efectos de los fármacos , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/tratamiento farmacológico , Vitamina D/uso terapéutico , Adolescente , Adulto , Femenino , Humanos , Persona de Mediana Edad , Osteomalacia/tratamiento farmacológico , Osteomalacia/etiología , Estudios Retrospectivos , Adulto JovenRESUMEN
The diagnosis of epilepsy depends upon a number of factors, particularly detailed and accurate seizure history, or semiology. Other diagnostic data, consisting of electroencephalography, video-monitoring of the seizures, and magnetic resonance imaging, are important in any comprehensive epilepsy program, particularly with respect to lateralizing and localizing the seizure focus, if such a focus exists, and with respect to determining the type of seizure or seizure syndrome. The aim of this review is to present a survey of important semiologic characteristics of various seizures that provide the historian with observations, which help to lateralize and localize epileptic zones. Clinical semiology is the starting point of understanding a seizure disorder and making the diagnosis of epilepsy. While it may not provide unequivocal evidence of localization of the epileptic focus, nevertheless it usually directs subsequent investigations, whose concordance is necessary for the ultimate localization.
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Convulsiones/fisiopatología , Animales , Lóbulo Frontal/fisiopatología , Humanos , Lóbulo Occipital/fisiopatología , Lóbulo Temporal/fisiopatologíaRESUMEN
Many physicians consider examining the nervous system as one of the most difficult parts of the physical examination. Difficult and poorly cooperative children remain the most challenging group to examine accurately and completely. In this situation, the physician becomes less confident about the neurological findings and clinical evaluation. Several factors are predictive of difficult behavior during the evaluation, including anxiety when meeting unfamiliar people, short time to adjust to the medical situation, previous hospitalization, fear of injections, and parental anxiety. Limited neurological literature addresses the issues relating to the examination of difficult and poorly cooperative children. In this review, some practical tips and techniques are presented that can be used to improve the likelihood of obtaining accurate information about the neurological status of young and difficult children. Certainly, repeated examinations and experience play an important role; however, solid knowledge, strong communication skills, accurate observational skills, and use of proper techniques are crucial for eliciting and interpreting neurological signs in difficult children. Finally, a patient and empathetic physician and supportive guiding parents are needed for a successful neurological assessment.
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Pediatría/métodos , Pediatría/normas , Relaciones Médico-Paciente , Ansiedad/psicología , Niño , Niño Hospitalizado/psicología , Miedo/psicología , Humanos , Examen Neurológico/métodos , Examen Neurológico/normas , Padres/psicología , Apoyo Social , Estrés Psicológico/psicologíaRESUMEN
BACKGROUND: Mothers of children with intractable epilepsy are generally stressed and experience more emotional problems. Fatigue may affect their productivity, social interactions, and their ability to adequately take care of their children. The objectives were to examine the relationship between intractable childhood epilepsy and maternal fatigue, and explore possible contributing factors. METHODS: Sixty-four consecutive mothers of children with intractable epilepsy were identified prospectively. Exclusion criteria included degenerative/metabolic disorders or life threatening illness, such as brain tumors. Fatigue was measured using a standardized 11-item questionnaire, which has been revalidated in an Arabic speaking population. RESULTS: Mothers' ages were 24-45 years (mean 34) and ages of their epileptic children were 1-15 years (mean 6.7). Most children (64%) had epilepsy for >2 years, were on >1 antiepileptic drug (AED) (72%), and had daily seizures (47%). Thirty-four (54%) of the children had motor deficits and 83% had mental retardation (severe in 41%). Twenty-eight (44%) mothers were fatigued. Factors associated with increased maternal fatigue included child's age <2 years (p=0.01), cryptogenic epilepsy (p=0.03), and severe motor deficits (p=0.04). Factors associated with lowered fatigue included performing regular exercise (p=0.006), lack of mental retardation (p=0.01), seizure control (p=0.05), using one AED (p=0.002), infrequent ER visits (p=0.005), and lack of recent hospitalization (p=0.005). CONCLUSIONS: Mothers of children with intractable epilepsy are increasingly fatigued. Several correlating factors were identified, mostly related to seizure control, mental and physical handicap. Strategies to manage the problem include proper education, seizure control, participation in regular exercise, social support, and psychological counseling.
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Epilepsia/fisiopatología , Epilepsia/psicología , Fatiga/fisiopatología , Madres , Adolescente , Adulto , Anciano , Anticonvulsivantes/uso terapéutico , Niño , Preescolar , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Arabia Saudita , Estadística como Asunto , Encuestas y CuestionariosRESUMEN
Cerebral palsy (CP) is a common pediatric disorder occurring in about 2 to 2.5 per 1000 live births. It is a chronic motor disorder resulting from a non-progressive (static) insult to the developing brain. CP is the clinical presentation of a wide variety of cerebral cortical or sub-cortical insults occurring during the first year of life. The commonest cause of CP remains unknown in 50% of the cases; prematurity remains the commonest risk factor. Children with CP suffer from multiple problems and potential disabilities such as mental retardation, epilepsy, feeding difficulties, and ophthalmologic and hearing impairments. Screening for these conditions should be part of the initial assessment. The child with CP is best cared for with an individualized treatment plan that provides a combination of interventions. This requires the provision of a number of family-centered services that make a difference in the lives of these children and their families. Management of spasticity can be challenging with a wide variety of possible therapeutic interventions. The treatment must be goal oriented, such as to assist with mobility, reduce or prevent contractures, improve positioning and hygiene, and provide comfort. Each member of the child's multidisciplinary team, including the child and both parents, should participate in the serial evaluations and treatment planning.
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Parálisis Cerebral/complicaciones , Parálisis Cerebral/clasificación , Parálisis Cerebral/terapia , Niño , Estreñimiento/etiología , Epilepsia/etiología , Pérdida Auditiva/etiología , Humanos , Discapacidad Intelectual/etiología , Trastornos del Movimiento/etiología , Espasticidad Muscular , Pronóstico , Trastornos del Sueño-Vigilia/etiología , Vejiga Urinaria Neurogénica/etiología , Trastornos de la Visión/etiologíaRESUMEN
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.
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Actitud del Personal de Salud , Medicina Familiar y Comunitaria , Relaciones Interprofesionales , Neurología , Pediatría , Especialización , Adulto , Niño , Curriculum , Medicina Familiar y Comunitaria/educación , Femenino , Humanos , Internado y Residencia , Masculino , Persona de Mediana Edad , Neurología/educación , Pediatría/educación , Derivación y Consulta , Arabia SauditaRESUMEN
BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a rare complication of measles virus infection. The disease is characterized by behavioural abnormalities, intellectual deterioration, motor weakness, and generalized myoclonic jerks progressing to coma and death in one to two years in 80% of the cases. The myoclonic jerks are associated with characteristic generalized slow periodic complexes on electroencephalography (EEG). The symptoms and signs of SSPE are frequently quite variable. The clinical course is equally variable and difficult to predict. The characteristic periodic myoclonus can rarely occur unilaterally particularly in the early stages of the disease. As well, the periodic EEG complexes have been reported unilaterally in up to 3% of cases. CASE REPORT: A 12-year-old boy, who was seen at a later stage with atypical manifestation of myoclonic body jerks confined entirely unilaterally, combined with contralateral periodic EEG complexes. One could assume clinically that the more diseased hemisphere was responsible for generating the jerks. However, brain magnetic resonance imaging revealed asymmetric hemispheric changes suggesting that the less neurologically damaged hemisphere is responsible for generating the unilateral myoclonic jerks. This has led to the interpretation that the more severely damaged hemisphere has lost the neuronal connectivity required to generate these periodic myoclonic jerks. CONCLUSIONS: Subacute sclerosing panencephalitis may have asymmetric hemispheric involvement, not only early, but also in the advanced stages of the disease, which can result in unilateral periodic myoclonic jerks.
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Mioclonía/complicaciones , Mioclonía/patología , Panencefalitis Esclerosante Subaguda/complicaciones , Panencefalitis Esclerosante Subaguda/patología , Niño , Humanos , Masculino , Mioclonía/fisiopatología , Panencefalitis Esclerosante Subaguda/fisiopatologíaRESUMEN
Dystonia is a state of continuous contraction of groups of agonist and antagonist muscles resulting in a sustained abnormal posture. Dopa-responsive dystonia was first described in 1976 by Segawa. Patients typically have diurnal variation of their symptoms with worsening at the end of the day and a dramatic response to low-dose L-dopa. This report presents five consecutive children with dopa-responsive dystonia who were misdiagnosed initially as spastic diplegic cerebral palsy, intractable epilepsy, hereditary spastic paraplegia, or a neurodegenerative disorder. There were two males and three females aged 3-13 years (mean 8.6 years). They were monitored for up to 2 years (mean 14.8 months). One had focal, one axial, one segmental, and two generalized dystonia. The dystonia was paroxysmal in two (tiptoe walking and opisthotonus), and all had a progressive course. All children responded dramatically to L-dopa (mean 200 mg/day), including three who were wheelchair-bound for several years. The difficulties in early diagnosis, variability of clinical presentation, and dramatic response to L-dopa will be illustrated. To conclude, dopa-responsive dystonia should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, because it responds so dramatically to L-dopa.
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Errores Diagnósticos , Dopaminérgicos/uso terapéutico , Distonía/diagnóstico , Distonía/tratamiento farmacológico , Levodopa/uso terapéutico , Adolescente , Parálisis Cerebral/diagnóstico , Niño , Preescolar , Distonía/etiología , Epilepsia/diagnóstico , Femenino , Humanos , Masculino , Paraplejía Espástica Hereditaria/diagnósticoRESUMEN
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.
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Actitud , Neurología , Pediatría , Estudiantes de Medicina/psicología , Adulto , Selección de Profesión , Femenino , Humanos , Masculino , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
Electroencephalography (EEG) is an important tool in investigating children with neurological disorders, particularly epilepsy. The objectives were to examine the relationship between clinical indications and EEG results, and assess the predictability of a normal result. 438 consecutive paediatric EEGs were included prospectively. One certified electroencephalographer (EEGer) reviewed EEG requisitions and recorded his prediction of a normal result. EEGs were reviewed separately and the relationship between the clinical indications and EEG abnormalities was recorded. The children's mean age was 5 years (SD 4.2). Paediatric neurologists ordered 32% of EEGs. The first EEG was studied in 65% of cases. Overall, 55% of the EEGs were abnormal. Repeat EEGs were twice as likely to be abnormal (95% CI 1.3-3, P= 0.001). Established epilepsy, using antiepileptic drugs, and sleep record, highly correlated with an abnormal result ( P< 0.0001). The EEGer predicted 26% of the EEGs to be normal. A normal EEG was correctly predicted in 97% of non-epileptic paroxysmal events, however, normalization of EEG was correctly predicted in only 54% of children with seizures. EEGs of 15 (3.4%) children with epilepsy revealed unexpected findings that completely changed their management. To conclude, a normal EEG is highly predictable in non-epileptic paroxysmal events. EEGs of children with epilepsy are not predictable and may yield unexpected results.
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Electroencefalografía/estadística & datos numéricos , Epilepsia/diagnóstico , Adolescente , Niño , Preescolar , Intervalos de Confianza , Epilepsia/fisiopatología , Humanos , Lactante , Recién Nacido , Oportunidad Relativa , Valor Predictivo de las Pruebas , Estudios ProspectivosRESUMEN
Knowledge of graduate student's impressions and attitudes toward pediatrics is important for planning strategies to stimulate their interest in pursuing a career in pediatrics. The clinical pediatric experience may influence many of their misconceptions and apprehension. This study was designed to examine this hypothesis. Rotating interns who were starting pediatric rotations between January 8, 1998 and January 4, 2001 were included prospectively. A structured 2-part, 28-item questionnaire examining their impressions and attitudes toward pediatrics was completed on the first week and at the end of the 8-week rotation. One hundred eighty-eight interns (53.5% males) aged 23 to 30 years (mean 24.8, SD 1.3) were included. One hundred two pre- and 86 post-rotation questionnaires were completed. Selecting pediatrics as the first future career choice did not change significantly at the end of the rotation, from 19.5% to 26% post-rotation. Females were 3.4 times more likely to select pediatrics (95% CI 1.6-7.8, p = 0.001). Several impressions about the specialty were significantly changed at the end of the rotation including worry about inflicting pain (28% vs 12%, p = 0.01), concerns about difficulties in the examination and cooperation of children (22% vs 8%, p = 0.01), and difficulties with intravenous access (43% vs 17%, p = 0.0003). Most interns (76%) felt that their pediatric rotation was better than anticipated. To conclude, although the rotation experience did not increase the likelihood of selecting pediatrics as the first future career choice, many impressions and concerns were positively influenced. The majority reported a better than anticipated experience.
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Actitud del Personal de Salud , Selección de Profesión , Internado y Residencia , Pediatría/educación , Adulto , Femenino , Humanos , Masculino , Estudios Prospectivos , Factores Sexuales , Encuestas y CuestionariosRESUMEN
The objective structured clinical examination (OSCE) has become an accepted method for evaluating clinical competence. Limited references are available for students and residents to help them prepare adequately for such examinations. In this review an outline on how to prepare, approach, and behave during the OSCE is presented. Students should prepare by repeated practice keeping in mind that the exam is usually divided into history and physical examination stations. Candidates should pay close attention to all given instructions and rules of the exam. During the encounter, proper interaction, and good communication with the patient and family are critical for a successful exam. At the end of the OSCE, candidates should avoid rushing the patient or asking for their mark. To conclude, careful preparation for the OSCE is needed to improve the likelihood of a successful outcome.
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Competencia Clínica , Evaluación Educacional , Internado y Residencia , Relaciones Médico-Paciente , Estudiantes de Medicina , Femenino , Humanos , Masculino , Examen FísicoRESUMEN
Primary stabbing "ice-pick" headache is rarely reported in children. It is characterized by transient, sharp stabbing pain that occurs within a localized area of the scalp for seconds. Five children were diagnosed according to the International Classification of Headache Disorders Diagnostic Criteria, Second Edition. Ages at diagnosis ranged from 6-16 years (mean age, 9.8 years), with signs lasting for 3-12 months (mean, 6.5 months) before assessment. All children presented with recurrent daily to monthly headaches that were very brief, lasting for seconds. The headache was orbital in one child, temporal in one child, and occipital in three children. Three children manifested other associated migraine headache types, and two had a positive family history of migraine. Amitriptyline was prescribed to two patients because of headache frequency and severity. The signs gradually subsided in all patients during follow-up of 3 months to 5 years (mean, 27 months). Primary stabbing headache may occasionally occur in children with features different from those encountered in adults. The headache is less frequent and often occipital in location. Its signs respond well to amitriptyline. However, larger prospective pediatric studies are needed to describe this syndrome further.
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Cefaleas Primarias/diagnóstico , Adolescente , Amitriptilina/uso terapéutico , Analgésicos no Narcóticos/uso terapéutico , Niño , Femenino , Cefaleas Primarias/tratamiento farmacológico , Humanos , Masculino , Resultado del TratamientoRESUMEN
Shuddering attacks are benign shivering movements occurring in young children. The etiology is unknown; however, a relationship to essential tremor has been postulated. A series of 12 consecutive children were identified over a 6-year period ending January 1, 2007. Shuddering attacks were diagnosed based on descriptive history and videotape review. Their referral diagnosis was epilepsy in 7 (58%) and movement disorder in 5 (42%). The referring physician never suspected the diagnosis. The age of onset ranged from 8 months to 2 years (mean 13 months). Family history was negative for essential tremor. None had epileptiform discharges on electroencephalography (EEG). All children were followed for 2 to 8 years (mean 6.3). Complete remission was noted by 3 to 7 years (mean 5.6) of age, and none had subsequent tremor during follow-up. In conclusion, shuddering attacks are frequently misdiagnosed leading to unnecessary investigations or treatment. No association with essential tremor was found neither in the child nor in the family.
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Temblor Esencial/complicaciones , Trastornos del Movimiento/complicaciones , Tiritona , Edad de Inicio , Encéfalo/fisiopatología , Niño , Preescolar , Diagnóstico Diferencial , Electroencefalografía , Epilepsia/diagnóstico , Temblor Esencial/diagnóstico , Familia , Estudios de Seguimiento , Humanos , Lactante , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/fisiopatología , Grabación en VideoRESUMEN
Pregabalin is a new antiepileptic drug that acts at presynaptic calcium channels, modulating neurotransmitter release. We report on treating consecutive children with severe drug-resistant epilepsy in a prospective, open-label, add-on trial. Nineteen children (63% male) aged 4-15 years (mean, 9.7; S.D., 2.9) were included. Most (74%) had daily seizures that failed multiple drugs (mean, 5). Epilepsy was symptomatic in 58%, and 74% exhibited associated cognitive deficits. Seizures were mixed in nine (47%), and four (21%) manifested Lennox-Gastaut syndrome. Pregabalin was maintained at 150-300 mg/day. On pregabalin, one (6%) child became seizure-free, and seven (37%) had >50% seizure reduction. The percentage of children with daily seizures was reduced from 74% before pregabalin to 37% afterward (P < 0.002). Side effects were evident in six (32%) with somnolence, weight gain, dizziness, or behavioral change. The drug was withdrawn in five (26%) children for lack of efficacy, and in two (11%) for worsening of myoclonic epilepsy. We conclude that pregabalin is a useful addition in the treatment of refractory childhood epilepsy. The drug should be used with caution in myoclonic epilepsy. Controlled studies are needed to establish long-term efficacy and tolerability.