Left hemisphere regions are critical for language in the face of early left focal brain injury.

A predominant theory regarding early stroke and its effect on language development, is that early left hemisphere lesions trigger compensatory processes that allow the right hemisphere to assume dominant language functions, and this is thought to underlie the near normal language development observed after early stroke. To test this theory, we used functional magnetic resonance imaging to examine brain activity during category fluency in participants who had sustained pre- or perinatal left hemisphere stroke (n = 25) and in neurologically normal siblings (n = 27). In typically developing children, performance of a category fluency task elicits strong involvement of left frontal and lateral temporal regions and a lesser involvement of right hemisphere structures.

IQ decline following early unilateral brain injury: a longitudinal study.

We examine whether children with early unilateral brain injury show an IQ decline over the course of development. Fifteen brain injured children were administered an IQ test once before age 7 and again several years later. Post-7 IQ scores were significantly lower than pre-7 IQ scores.

A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.

The authors studied nine members of a family that demonstrated a limited form of tuberous sclerosis complex (TSC). Cutaneous findings were limited to hypopigmented macules in four patients. Five family members had recurrent seizures, and three of these had migrational defects of the cerebral mantle.

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.

Background: The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder.

Objective: To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations.

Materials And Methods: A retrospective review of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done.

The neuropathology of phenylketonuria: human and animal studies.

Unlabelled: Pathologic changes in the brain of untreated phenylketonuria (PKU) patients occur in structures that develop post-natally, i.e. in myelination of subcortical white matter and spinal cord and in the growth of axons, dendrites and synapses in cerebral cortex.

Reorganization of the hand somatosensory cortex following perinatal unilateral brain injury.

Functional magnetic resonance imaging was used to map the hand somatosensory cortices of nine hemiparetic young adult patients with perinatal unilateral brain injury in the sensorimotor area and five normal subjects. Stimulation of the paretic hand by periodic manual squeezing produced activation in the contralateral hemisphere of three patients and in the ipsilateral hemisphere of three other patients. Paretic hand stimulation produced no activation in either hemisphere of the remaining three patients.

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups: anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%).

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Long-range, directed migration is particularly dramatic in the cerebral cortex, where postmitotic neurons generated deep in the brain migrate to form layers with distinct form and function. In the X-linked dominant human disorder periventricular heterotopia (PH), many neurons fail to migrate and persist as nodules lining the ventricular surface. Females with PH present with epilepsy and other signs, including patent ductus arteriosus and coagulopathy, while hemizygous males die embryonically.

Two 22q telomere deletions serendipitously detected by FISH.

Cryptic telomere deletions have been proposed to be a significant cause of idiopathic mental retardation. We present two unrelated subjects, with normal G banding analysis, in whom 22q telomere deletions were serendipitously detected at two different institutions using fluorescence in situ hybridisation (FISH). Both probands presented with several of the previously described features associated with 22q deletions, including hypotonia, developmental delay, and absence of speech.

Regional differences in synaptogenesis in human cerebral cortex.

The formation of synaptic contacts in human cerebral cortex was compared in two cortical regions: auditory cortex (Heschl's gyrus) and prefrontal cortex (middle frontal gyrus). Synapse formation in both cortical regions begins in the fetus, before conceptual age 27 weeks. Synaptic density increases more rapidly in auditory cortex, where the maximum is reached near postnatal age 3 months.

Allogeneic bone marrow transplantation for Alexander's disease.

In this case report, we evaluate the efficacy of allogeneic bone marrow transplantation (BMT) in a 7-month-old female with the infantile form of Alexander's disease. Based on research that describes Alexander's disease as a leukodystrophy which may result from an unidentified enzyme deficiency, we attempted marrow transplantation to reverse or arrest the patient's neurological deterioration. Despite an initial return to her pretransplant neurological state, the patient's neurological status deteriorated.

Use of barbiturates in the treatment of cyclic vomiting during childhood.

Background: Cyclic vomiting is an uncommon disorder that can be described as recurrent, self-limiting, fairly uniform episodes of intractable nausea and vomiting with no identifiable organic cause, separated by symptom-free intervals. There is no established therapeutic regimen for this disorder.

Methods: Fourteen children referred to the Pediatric Gastroenterology Clinic were diagnosed with cyclic vomiting from May 1984 to January 1995.

Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.

Periventricular heterotopia (PH) involves dramatic malformations of the human cerebral cortex. Here we show that PH is closely linked to markers in distal Xq28 (maximal two-point lod score = 4.77 for F8C at theta = 0; maximal multipoint lod score = 5.

When does childhood epilepsy become intractable? Indications and contraindications for epilepsy surgery in children.

Surgery for intractable childhood epilepsy may be of great benefit; however, there is a natural tendency for many children with intractable epilepsy to gradually achieve seizure control over years of follow-up. This evolution is much more likely if intelligence is normal. Progressive deterioration in intelligence, school performance, or behavior may be more important in the decision for early surgery than are the seizures themselves.

Functional magnetic resonance studies of the reorganization of the human hand sensorimotor area after unilateral brain injury in the perinatal period.

Functional magnetic resonance imaging was used to map the hand sensorimotor area of hemiparetic adolescents and young adults who had suffered unilateral brain damage in the perinatal period. Unlike normal subjects, who exhibit cortical activation primarily contralateral to voluntary finger movements, the hemiparetic patients' intact hemispheres were equally activated by contralateral and ipsilateral finger movements. Our findings are consistent with previous clinical observations and animal experiments which suggest that the immature brain is able to reorganize in response to focal injury.

Periventricular heterotopia and epilepsy.

We report a family with nodular subependymal masses of heterotopic gray matter occurring in six members in four generations. Only female members of the family are affected, and there is a high rate of spontaneous abortion, consistent with X-linked dominant inheritance, and lack of viability in affected males. Both in this family and in sporadic cases of subependymal heterotopias there is a high frequency of convulsive disorders, suggesting that epilepsy may be the major clinical manifestation of this developmental defect.

Cyclic AMP metabolism in fragile X syndrome.

Cyclic AMP (cAMP) metabolism was studied in platelets from a series of 14 patients with fragile X syndrome (fra X) and 21 control individuals. 1-Isobutyl-3-methylxanthine was used to inhibit phosphodiesterase and thus measure cAMP production, prostaglandin E1 was used to assess receptor-mediated cAMP accumulation, and forskolin was used to directly stimulate the catalytic subunit. In patients with fra X, basal production was 63% of that of control subjects (p = 0.

Effects of changes in the periphery on development of the corticospinal motor system in the rat.

Effects of changes in the periphery on development of the corticospinal (CS) motor system were studied in the rat. Unilateral forelimb restraint between ages 5 and 30 days resulted in an increase in the number of CS neurons which persisted in the adult. The effect was most marked ipsilateral to limb restraint where both crossed and uncrossed CS connections were increased, but it also occurred to a lesser extent on the contralateral side.

Dendritic and synaptic pathology in mental retardation.

Histologic changes in brains from mentally retarded patients are often subtle and may be limited to abnormalities in the dendritic and synaptic organization of the cerebral cortex. Special methods may be necessary for their demonstration. This review summarizes data on dendritic and synaptic pathology in human mental retardation syndromes.

Cellular neuropathology of tuberous sclerosis.

The study of cerebral lesions of TSC by special histologic methods suggests that two populations of neurons and glia occur in TSC brains. One is a population of normally differentiated cells that form a normally constituted cortical plate. The other is a group of cells that are poorly differentiated, fail to organize into a normal cortical architecture, and form a variety of abnormal cellular aggregates in cortex and in subcortical locations.

A follow-up study of intractable seizures in childhood.

One hundred forty-five children with seizures that were refractory to medical therapy for at least 2 years were followed 5 to 20 years after onset. The majority of children with uncontrollable seizures (61%) were mentally retarded, and most of these (73%) had onset of seizures at younger than 2 years of age. Age of onset was significantly later (mean 5.

Discrimination of normal and at-risk preschool children on the basis of neurological tests.

A set of neurological tasks was administered to normal three- and five-year-old preschool children as well as to equal-age children identified as being at-risk for learning disabilities. 12 neurological test items were identified that differentiated normal from at-risk children at one or both ages. Follow-up of the five-year-olds at age seven showed a significant linear relation between scores on neurological tasks and the Wechsler Intelligence Test for Children.

Morphometric study of human cerebral cortex development.

Morphometric studies of immature cerebral cortex in humans show developmental changes extending up to the time of adolescence. Growth of dendrites and of synaptic connections occurs during infancy and early childhood. Excess synaptic connections are eliminated during later childhood years.

Inter- versus intra-subject variance in topographic mapping of the electroencephalogram.

The variability of the normal topographic EEG distribution between a quiet, eyes closed, resting state and the performance of cognitive tasks (listening to a story or music) was studied in 20 normal (10 male) right-handed college students or graduates ages 18-40 yrs. Amplitude changes in the topographic frequency distribution (2.5-7 SD) of alpha frequency band (8-13 Hz) were noted between tasks and resting state in individual subjects.