[Show abstract][Hide abstract] ABSTRACT: Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also noted, which imply Mucopolysaccharidosis(MPS) IIIB.
[Show abstract][Hide abstract] ABSTRACT: Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25-10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.
[Show abstract][Hide abstract] ABSTRACT: This study presents an evaluation of the bidirectional correlation between attention deficit hyperactivity disorder (ADHD) and epilepsy using 2 cohorts from the same population database.
We used data from the Taiwan National Health Insurance Research Database to establish 2 separate cohort studies with participants <19 years old. We subdivided Cohort 1 in 2 groups: (1) 2468 patients initially diagnosed with epilepsy during the period 1999-2008, and (2) 9810 randomly selected sex- and age-matched non-epileptic controls. We subdivided Cohort 2 into 2 groups: (1) 3664 patients with newly diagnosed ADHD and (2) 14 522 sex- and age-matched non-ADHD patients. We evaluated the risk of subsequent ADHD in relationship to epilepsy and vice versa in the 2 cohorts at the end of 2008.
The ADHD incidence in Cohort 1 was 7.76 in patients with epilepsy and 3.22 in those without epilepsy (per 1000 person-years) after a median follow-up of 7-7.5 years. The adjusted hazard ratio (HR) for ADHD was 2.54 (95% CI 2.02-3.18) in the epilepsy group compared to the non-epilepsy group. In Cohort 2, the incidence of epilepsy was 3.24 in patients with ADHD and 0.78 in those without ADHD (per 1000 person-years) after a median follow-up of 3-3.5 years and an HR of 3.94 (95% CI 2.58-6.03).
This study shows a bidirectional association between ADHD and epilepsy in the 2 cohort studies. Causative factors may be common between these 2 disorders, leading to a cascade of transcriptional changes in the brain that alter behavior or cognition prior to seizures.
PLoS ONE 03/2013; 8(3):e57926. · 3.53 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: In encephalopathic infants, cerebrospinal fluid hyperglycinemia and elevated cerebrospinal fluid to plasma glycine ratio are considered pathognomonic of nonketotic hyperglycinemia (NKH). We present a case of NKH complicated by neonatal intractable seizures. Increased ratio of cerebrospinal fluid to plasma glycine concentrations of 0.28 was seen as a strong diagnostic indicator of nonketotic hyperglycinemia. Evaluating sick neonates with hypotonia, encephalopathy, and/or seizures is a diagnostic challenge. NKH should be considered; elevated cerebrospinal fluid/plasma glycine ratio will allow correct identification and treatment more often in the future.
[Show abstract][Hide abstract] ABSTRACT: Schizophrenia and epilepsy may share a mutual susceptibility. This study examined the bidirectional relation between the two disorders.
We used claims data obtained from the Taiwan National Health Insurance database to conduct retrospective cohort analyses. Analysis 1 compared 5,195 patients with incident schizophrenia diagnosed in 1999-2008 with 20,776 controls without the disease randomly selected during the same period, frequency matched with sex and age. Analysis 2 comprised a similar method to compare 11,527 patients with newly diagnosed epilepsy with 46,032 randomly selected sex- and age-matched controls. At the end of 2008, analysis 1 measured the incidence and risk of developing epilepsy and analysis 2 measured the incidence and risk of developing schizophrenia.
In analysis 1, the incidence of epilepsy was higher in the schizophrenia cohort than in the nonschizophrenia cohort (6.99 vs. 1.19 per 1,000 person-years) with an adjusted hazard ratio (aHR) of 5.88 [95% confidence interval (CI) 4.71-7.36] for schizophrenia patients. In analysis 2, the incidence of schizophrenia was higher in the epilepsy cohort than in the nonepilepsy comparison cohort (3.53 vs. 0.46 per 1,000 person-years) with an aHR of 7.65 (95% CI 6.04-9.69) for epilepsy patients. The effect of schizophrenia on subsequent epilepsy was greater for women, but the association between epilepsy and elevated incidence of schizophrenia was more pronounced in men.
We found a strong bidirectional relation between schizophrenia and epilepsy. These two conditions may share common causes. Further studies on the mechanism are required.
[Show abstract][Hide abstract] ABSTRACT: Linkage between allergy and increased immune response activation in Tourette syndrome (TS) has been reported. We performed a matched case-control study to evaluate correlation between allergic diseases and TS.
Data in this case-control study were from the Taiwan National Health Insurance Research Database. The sample comprised 845 2- to 18-year-old patients with newly diagnosed TS in 2003–2007 and 3378 controls frequency matched with cases on age, sex, and urbanization level. Unconditional logistic regression estimated odds ratios (ORs) and 95% confidence intervals (CIs) of the association between allergic disease (e.g., allergic rhinitis, atopic dermatitis, asthma, and allergic conjunctivitis), the number of allergic comorbidities, and TS.
The majority (76.0%) of incident TS cases were boys; the 4 allergic diseases strongly correlated with higher risk of TS. In a model simultaneously considering all 4 allergic diseases, subjects with allergic rhinitis showed double the risk of TS (adjusted OR = 2.18, 95%CI 1.83–2.59; p < 0.0001); adjusted ORs were 1.82, 1.61, and 1.33, respectively, for asthma (95% CI 1.47–2.24; p < 0.0001), dermatitis (95%CI 1.32–1.95; p < 0.0001), and allergic conjunctivitis (95% CI 1.13–1.57; p < 0.001). Risk increased with number of comorbidities (p < 0.0001); this association was positively modified by age (p < 0.0001).
Our data showed significant correlation between allergic diseases and TS. Risk also increased with number of allergic comorbidities and with age. Further studies on the mechanism of neuroimmunology of TS are required.
Journal of developmental and behavioral pediatrics: JDBP 01/2011; 32(2):98-102. · 2.12 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Pediatric intracranial aneurysm rupture is rare, and is traditionally managed by surgical clipping. To the best of our knowledge, endovascular embolization of aneurysms in neonates has not previously been reported in Taiwan. We report a 9-day-old boy with intracranial aneurysms who underwent endovascular embolization, representing the youngest reported case in Taiwan. The 9-day-old boy presented with non-specific symptoms of irritable crying, seizure and respiratory distress. Computed tomography disclosed intraventricular hemorrhage, subarachnoid hemorrhage and focal intracranial hemorrhage around the right cerebellum. Subsequent computed tomographic angiography showed two sequential fusiform aneurysms, measuring 3 mm, located in the right side posterior inferior cerebellar artery (PICA). The patient underwent endovascular embolization because of the high risk of aneurysm re-rupture and the impossibility of surgical clipping due to the fusiform nature of the aneurysms. A postembolization angiogram revealed complete obliteration of the right distal PICA and proximal aneurysm. The distal PICA aneurysm was revascularized from the collateral circulation, but demonstrated a slow and delayed filling pattern. The patient's condition remained stable over the following week, and he was discharged without anticonvulsant therapy. No significant developmental delay was noted at follow-up at when he was 3 months old. This case emphasizes the need for clinical practitioners to consider a diagnosis of intracranial hemorrhage in neonates with seizure and increased intracranial pressure. Neonatal intracranial aneurysms can be treated safely by endovascular treatment.
[Show abstract][Hide abstract] ABSTRACT: Hydranencephaly is characterized by severe dysgenesis of the cerebral hemispheres, with relative preservation of the thalamus, cerebellum and brainstem. Modern neurological imaging techniques have demonstrated that the affected regions are usually localized within the territories of the middle cerebral arteries. Evoked potentials have confirmed the imaging findings. This article reports on two neonates with hydranencephaly who presented with normal appearance. Neurological images were characterized by marked reduction of the total brain cortex, which was replaced by fluid. Evoked potentials demonstrated preserved auditory evoked potentials but a total absence of visual evoked potentials. These diagnostic techniques provided efficient and precise information concerning the extent of intracranial dysgenesis.
[Show abstract][Hide abstract] ABSTRACT: Thalassemia was first described by Cooley and Lee in 1952 in several Italian children as a severe anemia with spleen and liver enlargement, skin discoloration, and bony changes. Great strides in management and intervention have not been matched by progress in psychosocial rehabilitation. Because parental stress and adaptation are of concern, this study focuses on parental stress and adjustment in response to the disease process of their afflicted children in western Taiwan. The parents of 18 thalassemia major patients (under 12 years of age) were interviewed (in two sessions) to determine their feelings, sources of stress, and support during their childrens' disease process. The study found that: 1) many parents suffer from stress as a result of the disease process, 2) all parents had similar concerns about iron chelation treatment, and 3) some resilience factors were present in the support system.
[Show abstract][Hide abstract] ABSTRACT: Comprehensive care for thalassemia major (TM) patients has achieved great advances in the world, yet psychosocial developmental aspects of care in families with afflicted members has made only limited progress. Besides confronting the disease itself, a major task for children with TM is to develop into autonomous, healthy, and functioning adults. An emerging concept in considering the adjustment of children with chronic physical disorders is "quality of life"(QL). To study the QL with regard to reflection by psychosocial adjustment in TM children, we enrolled 55 TM patients undergoing intravenous (IV) and/or oral iron chelation, 39 of whom completed the content on issues related to QL according to Cramer and Devinsky. It was concluded that oral iron chelation can be better adjusted than IV iron chelation for a thalassemic child. This favors its use, but not necessarily in combination with IV iron chelation. Perception gaps that arise from age or generation merit concern. This approach to the study of QL, as reflected by psychosocial adjustment in children with TM, is an excellent method for learning about parental-child adjustment regarding a chronic physical condition such as TM.
[Show abstract][Hide abstract] ABSTRACT: Ophthalmoplegia, ataxia, and areflexia were first described in 1956 by Miller Fisher and later were referred to as symptoms of Miller Fisher syndrome (MFS). This syndrome shares certain features with the Guillain-Barré syndrome (GBS), including areflexia, cerebrospinal fluid findings and often a postinfectious presentation. It was believed to be a variant of GBS, but Miller Fisher syndrome has several key clinical features which differ from GBS. The anatomic location and pathogenesis of MFS continue to be a matter of debate. Our report focuses on a 6-year-old female patient who developed MFS following a respiratory tract infection with a serologically proven Mycoplasma pneumoniae infection. Although several neurological complications after Mycoplasma pneumoniae infection have been reported, subsequent MFS development has rarely been reported previously.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 45(3):168-70.
[Show abstract][Hide abstract] ABSTRACT: The vein of Galen aneurysm is a rarely seen congenital intracranial vascular malformation with abnormal aneurysmal dilation of the vein of Galen in neonatal stage. We report a full- term female newborn presented with intractable heart failure, pulmonary artery hypertension, and respiratory distress soon after birth, in whom persistent pulmonary hypertension of newborn was suspected initially. Further study by ultrasound revealed turbulent blood flow in the cerebral vascular lesion in the region of vein of Galen; therefore, secondary pulmonary artery hypertension complicated with 'steal' phenomenon was impressed. With the advancement of diagnostic technique, ultrasound provides a rapid and noninvasive method for diagnosing the condition.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 47(1):34-7.
[Show abstract][Hide abstract] ABSTRACT: The purpose of this study was to identify the functional domains and etiological risk factors of children with developmental delay (DD). During a 41-month period, a retrospective chart review was carried out on all 1192 patients who visited pediatric clinics for evaluation of developmental delay or behavioral problems. Etiological risk factors or associated disorders were identified after the completion of clinical evaluation and a series of laboratory investigations. Clinical psychologists examined the functional domains of those patients who underwent developmental and psychological assessments. Those children who met the criteria of DD were subdivided into six functional subtypes, including cognitive, motor, language, social adaptation, global and non-specific developmental delay. A total of 1192 children were diagnosed as DD, 86.7% had cognitive DD, 58.4% had language DD and 47.9% had motor DD. Of 1192 children, 831 were male, and the ratio male to female was 2.3 to 1. Only 20.5% (244) of children had identifiable etiological risk factors and 35.6% (424) had associated disorders. Results showed DD was more prevalent in males, and cognitive delay was the most common subtype. Identifying the etiological risk factors of DD remains difficult because of its heterogeneity.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 46(4):192-5.