Search results for "developmental neuroscience"

Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.

1987

Skin and lymphocytes of three patients with early juvenile neuronal ceroid-lipofuscinosis (NCL) were ultras trueturally investigated. Fingerprint profiles (FPP), isolated and I or mixed with curvilinear profiles (CLP), in various dermal cells and large, usually single lipopigments delineated by a trilaminar membrane and filled with a granular matrix, FPP and occasionally lipid droplets in lymphocytes were observed in all three patients. Characteristic lipopigments in lymphocytes are an important feature to differentiate between early juvenile NCL and late infantile and juvenile NCL.

Neuropathology of neurometabolic diseases in children with epilepsy.

2011

Neurometabolic diseases are largely hereditary ones. They encompass lysosomal, peroxisomal, mitochondrial, and polyglucosan diseases as well as amino and organic acidemias/acidurias. Neuropathologically, the entire brain may be affected, i.e. pan-encephalopathy, the grey matter, preferentially being called polioencephalopathy or, when lesions might predominate in white matter, leukoencephalopathies/leukodystrophies. An important issue are extracerebral biopsies that facilitate or allow in vivo diagnosis and may be achieved by electron microscopy. Modern neuropathological techniques may retroactively be applied to archival tissues and those of modern mouse models.

P1‐278: apoE4, risk factor of Alzheimer's disease, study in young adults

2010

Review: Neuroradiological aspects of infantile spasms

1987

With the modern noninvasive brain imaging methods, cerebral lesions of different types and degrees can frequently be determined in infants with West syndrome. In CT examinations preceding the spasms and the ACTH therapy, "idiopathic" forms of infantile spasms were rare. The CT findings consistent with perinatal or postnatal encephalopathy were more frequent than those found with embryonic or fetal lesions alone. The fact that pathognomonic changes cannot be determined, may reflect the low specificity of CT diagnosis in infants with chronic CNS diseases. A slight and mostly transient enlargement of CSF spaces during ACTH therapy is a probable side-effect of the medication. In infants with pe…

Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings

2014

Abstract It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine…

Speech and language development of children born at 32 weeks' gestation: a 5-year prospective follow-up study

2008

Speech and language comprehension and production were assessed at the age of 5 years in a cohort of children born preterm at 32 weeks' gestational age (N=55) in comparison with children born at term and of similar age, sex, and social backgrounds. Data both including and excluding major neurological disabilities are presented. Mean performance for the entire group of preterm children was significantly lower than for the controls on most of the measures including the composite IQ scores. When the nine children who had major neurological disabilities were excluded from the preterm “group, statistically significant differences were found on four of the total 12 speech and language measures. In…

Academic skills in children with early-onset type 1 diabetes: the effects of diabetes-related risk factors

2012

Aim  The study aimed to assess the effects of diabetes-related risk factors, especially severe hypoglycaemia, on the academic skills of children with early-onset type 1 diabetes mellitus (T1DM). Method  The study comprised 63 children with T1DM (31 females, 32 males; mean age 9y 11mo, SD 4mo) and 92 comparison children without diabetes (40 females, 52 males; mean age 9y 9mo, SD 3mo). Children were included if T1DM had been diagnosed before the age of 5 years and if they were aged between 9 and 10 years at the time of study. Children were not included if their native language was not Finnish and if they had a diagnosed neurological disorder that affected their cognitive development. Among th…

Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature

2021

Abstract Background Ocular paroxysmal events can accompany a variety of neurological disorders. Particularly in infants, ocular paroxysmal events often represent a diagnostic challenge. Distinguishing between epileptic and nonepileptic events or between physiological and pathologic paroxysmal events can be challenging at this age because the clinical evaluation and physical examination are often limited. Continuous polygraphic video-electroencephalography (EEG) monitoring can be helpful in these situations. Methods We review ocular paroxysmal events in newborns and infants. The aim is to improve clinical recognition of ocular paroxysmal events and provide a guide to further management. Usin…

Temperature dependence of the toxic effects of phenytoin on peripheral neuromuscular function of the rat tail.

1990

We studied the acute effects of a single dose of phenytoin (250 mg/kg) on peripheral neuromuscular function. The evoked muscle action potentials of the dorsal segmental muscles in the rat tail, and the conduction velocity of the dorsal nerve trunk which innervates them, were measured before and after the intraperitoneal injection of phenytoin. The experiments were performed at different temperatures, 27 (physiological tail temperature), 36 and 37 degrees C (physiological central temperature) in different groups of animals. The amplitudes of the evoked muscle action potentials in the treated groups showed no significant modifications at 27 degrees C, at 36 degrees C a small nonsignificant de…

Implicit and explicit syntactic knowledge and reading in pre-adolescents

1999

This aim of this paper is to analyse the links between syntactic awareness and reading, in its recoding and comprehension aspects, in pre-adolescent readers. The study, conducted with 83 sixth grade pupils, examined the relation between (1) seven syntactic and morpho-syntactic tasks (repetition, judgment, correction, localization, explanation, replication and identification) and (2) several indicators of recoding and comprehension in reading. Regression analyses revealed differential contributions as a function of syntactic task, type of agrammaticality, and the aspect of reading tested, after we had controlled for the influence of reasoning, memory, and linguistic competences. Contribution…