Abstract：
:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japanese patients, using a modified version of the functional independence measure (FIM). Scores of ADL for patients with a severe phenotype were significantly lower than those of control children. Total scores were highest around 5-7 years old, then progressively decreased, and scores <40 were obtained with patients aged 9 years or more. In contrast to motor scores, cognitive scores decreased rapidly, generally reaching a minimum score at around 7 years old. On the other hand, in children with attenuated phenotype, total scores increased progressively with age similar to control children. Two children who had the highest grades at elementary school showed maximum scores. However, all adult patients did not show maximum total scores, and 3 of 4 patients over 25 years old showed decreasing scores. Two children and two adults showed significant lower scores compared with other patients, suggesting an intermediate form from the view of ADL. This study elucidated the precise clinical state of Hunter disease with distinct numerical scores, in addition to previously described narrative data. To maintain the QOL of the patients better, they and their family need to know what specific difficulties they encounter, in which period they encounter them, and what support can fix them. Further ADL investigations with larger populations and/or long-term sequential examination could help the patients and family to understand them well.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kato T,Kato Z,Kuratsubo I,Ota T,Orii T,Kondo N,Suzuki Ydoi
10.1016/j.braindev.2006.08.015subject
Has Abstractpub_date
2007-06-01 00:00:00pages
298-305issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00204-Xjournal_volume
29pub_type
杂志文章abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.01.009
更新日期：2006-09-01 00:00:00
abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.11.001
更新日期：2018-04-01 00:00:00
abstract：:Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.10.005
更新日期：2019-03-01 00:00:00
abstract：:A 15-year-old boy presenting with epilepsy, optic atrophy and intracranial calcifications was diagnosed as having metaphyseal dysplasia by bone X-ray examinations. The patient had no laboratory data suggesting other metabolic or endocrinologic disorders. In addition, CT scans showed unique intracranial calcifications ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00040-5
更新日期：1997-09-01 00:00:00
abstract：:The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.12.001
更新日期：2011-06-01 00:00:00
abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
abstract：INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.07.007
更新日期：2016-02-01 00:00:00
abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80040-3
更新日期：1989-01-01 00:00:00
abstract：:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00093-1
更新日期：2002-10-01 00:00:00
abstract：:Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00023-2
更新日期：2002-04-01 00:00:00
abstract：:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.02.003
更新日期：2020-05-01 00:00:00
abstract：:The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(96)00051-4
更新日期：1996-09-01 00:00:00
abstract：:A rare case of a congenital brain tumor was diagnosed by sonography in a fetus at 37weeks' gestation. The ultrasound examination showed a large area of both increased echogenicity and echolucency in one hemisphere suggestive of brain tumor or hemorrhage. Extensive surgical removal of the tumor was performed and reveal...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.02.006
更新日期：2010-11-01 00:00:00
abstract：:We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.03.003
更新日期：2011-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
abstract：:The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80170-7
更新日期：1990-01-01 00:00:00
abstract：AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.03.004
更新日期：2020-06-01 00:00:00
abstract：:21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.004
更新日期：2010-05-01 00:00:00
abstract：AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.01.009
更新日期：2015-10-01 00:00:00
abstract：:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00102-x
更新日期：2002-12-01 00:00:00
abstract：:Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.016
更新日期：2010-04-01 00:00:00
abstract：:Heterotopic gray matter was detected by means of magnetic resonance imaging in a 3-year-old girl with left hemiparesis and atonic seizures. In the inversion recovery sequence, a large area of decreased signal intensity was noted in the right centrum semiovale and differentiation of the right basal ganglia was not clea...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80012-8
更新日期：1987-01-01 00:00:00
abstract：:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 00:00:00
abstract：:It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/S0387-7604(03)00170-0
更新日期：2004-08-01 00:00:00
abstract：:Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.02.015
更新日期：2005-03-01 00:00:00
abstract：:A servo system including a microwave generator was applied to raise a rat's body temperature at a pre-set rate. Using this system the effects of age and the temperature elevation rate upon febrile seizures in rats were studied. The relationship between the brain GABA content and hyperthermia was also studied. From the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80307-x
更新日期：1990-01-01 00:00:00
abstract：:Becker muscular dystrophy (BMD) was diagnosed in a male patient with Klinefelter's syndrome (47, XXY karyotype). The BMD was confirmed by (i) immunohistological methods and Western blotting, showing decreased quantity of dystrophin in muscle biopsy specimen and (ii) molecular genetic analysis which demonstrated a homo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00032-6
更新日期：1997-07-01 00:00:00
abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.01.010
更新日期：2018-06-01 00:00:00
abstract：:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cyt...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80096-0
更新日期：1984-01-01 00:00:00
abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.12.004
更新日期：2006-08-01 00:00:00
