A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.

Intractable seizures, developmental delay, and the ketogenic diet.

Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare, treatable cause of developmental delay and seizures. It must be considered in the differential diagnosis of infants with intractable seizures. The finding of a low glucose level in the cerebrospinal fluid with normal level in the blood in the absence of pleocytosis or other cerebrospinal fluid abnormalities identifies the condition.

Proximal muscle weakness in a 15-year-old boy.

Proximal muscle weakness, often indicative of a myopathy, has a broad differential diagnosis in children. We present a case of an adolescent boy with proximal weakness and a mildly elevated creatine kinase. He was found to have spinal muscular atrophy type III rather than a myopathy.

Very early arterial ischemic stroke in premature infants.

Early stroke in the premature infant has rarely been described. Presented here are the cases of 23 infants, born between 23 and 35 weeks gestational age, with focal arterial ischemic stroke occurring before 44 weeks gestational age. Ten (43%) were male.

Cerebral palsy after perinatal arterial ischemic stroke.

The frequency of cerebral palsy, degree of disability, and predictors of disability were assessed in children in a perinatal arterial stroke database. Risk factors were assessed at the univariate level using the Pearson chi(2) and Fisher exact test and at the multivariate level using logistic regression analysis. Seventy-six of 111 children with perinatal stroke (68%) had cerebral palsy, most commonly hemiplegic (66/76; 87%).

Neuropsychologic outcomes in a case series of twins discordant for perinatal stroke.

Perinatal stroke may affect cognitive development, but few studies have addressed the details of cognitive function after perinatal stroke. The present study was designed to compare the neuropsychologic features of five sets of twins discordant for perinatal stroke. All of the affected children had unilateral middle cerebral artery infarction (two left, three right); four of the five infarcts were large-branch, affecting the entire M1 territory.

Epilepsy in children with delayed presentation of perinatal stroke.

A subgroup of children with perinatal stroke do not present clinically until after the perinatal period. Detailed epilepsy outcomes in these children have not been well studied. A retrospective cohort study of 45 children with delayed presentation of perinatal stroke identified by review of pediatric stroke clinic records, physician referral, and International Classification of Diseases, Ninth edition, code searches of hospital records, was performed at a tertiary pediatric hospital in Indianapolis, Indiana.

Association of cerebral palsy with other disabilities in children with perinatal arterial ischemic stroke.

The association of cerebral palsy with other disabilities in children with perinatal stroke has not been well-studied. We examined this association in 111 children with perinatal stroke: 67 with neonatal presentation, and 44 with delayed presentation. Seventy-six children (68%) had cerebral palsy, which was hemiplegic in 66 and tri- or quadriplegic in 10.

Perinatal stroke and the risk of developing childhood epilepsy.

Objectives: To describe the prevalence of epilepsy after 6 months of age in children with perinatal stroke and examine whether perinatal data predict epilepsy onset and resolution.

Study Design: A retrospective review of 64 children with perinatal stroke. In children with at least 6 months of follow-up data, Kaplan-Meier curves, univariate log-rank tests, and Cox proportional hazards models were used to examine predictors of time to development of seizures, and time to resolution of seizures in children with epilepsy.

Age-related variation in presenting signs of childhood arterial ischemic stroke.

The objective of this study was to determine whether there are age-related variations in the clinical presentation of cerebral arterial ischemic stroke in children after the perinatal period. We performed a retrospective record review of 76 children with cerebral arterial ischemic stroke occurring between 44 weeks of conceptional age and age 19 years. These children were seen by our pediatric stroke group between September 1, 1989 and August 1, 2005.

Two cousins with neonatal stroke, PAI-1 4G variant and MTHFR A1298C mutation.

The authors describe 2 female cousins with neonatal stroke. One was heterozygous for the plasminogen activator inhibitor-1 4G variant and compound heterozygous for the A1298C and C677T methylenetetrahydrofolate reductase mutations. Her cousin was homozygous for the plasminogen activator inhibitor-1 4G variant and heterozygous for the methylenetetrahydrofolate reductase A1298C and factor V Leiden mutations.

Accuracy of ICD-9 codes for identifying children with cerebral sinovenous thrombosis.

Childhood sinovenous thrombosis is rare, making it difficult to study; International Classification of Diseases, ninth revision (ICD-9), code searches across multiple hospitals would permit the identification of large numbers of children with sinovenous thrombosis. However, the accuracy of these codes for identifying childhood sinovenous thrombosis has not been established. We performed a retrospective search of admissions records for Riley Hospital for Children in Indianapolis, Indiana, from January 1999 to June 2005 using ICD-9 codes 325 (cerebral sinovenous thrombosis, excluding nonpyogenic cases and cases associated with pregnancy and the puerperium), 437.

Accuracy and yield of ICD-9 codes for identifying children with ischemic stroke.

The medical records of all children at our hospital with International Classification of Diseases 9th revision (ICD-9) codes 342, 433 to 438, or 767 from May 1999 to May 2004 were reviewed to assess whether they had stroke (any type) or, specifically, arterial ischemic stroke (AIS). Code accuracy ranged from 37 to 88%; each code missed more than half of AIS identified by the combined code search. Studies are needed to determine whether other local and national ICD-9 databases have similar limitations.

Perinatal stroke in twins without co-twin demise.

Perinatal stroke in twins without co-twin demise has not been well-described. In this study, the International Classification of Diseases- 9th edition code searches and medical record review were used to identify all children with arterial ischemic stroke examined in a pediatric stroke clinic over a 2-year period. Four of the 35 children (11.

Outcomes of children with infantile spasms after perinatal stroke.

The object of this study was to describe the outcomes of children with infantile spasms resulting from perinatal stroke. We used International Classification of Diseases, Ninth Revision (ICD-9) searches of billing records to identify 110 children with infantile spasms examined at our hospital from 1998 through 2005. Five of the 99 with symptomatic spasms (5%) had perinatal stroke.

Cerebral sinovenous thrombosis in the neonate.

Background: There are few studies on neonatal cerebral sinovenous thrombosis (SVT).

Objectives: To describe the presentations, treatments, and outcomes of neonatal SVT and to assess infarction as a predictor of outcome.

Design: Retrospective chart study.

Family history is a poor screen for prothrombotic genes in children with stroke.

Objective: To evaluate family history of early pathological thrombosis as a screen for genetic prothrombotic risk factors in children with stroke.

Study Design: A 5-year retrospective review of standardized pediatric stroke clinic evaluations of children with arterial ischemic stroke (AIS) or sinovenous thrombosis (SVT). A family history of early pathological thrombosis was defined as stroke, heart attack, or deep venous thrombosis before 50 years of age or multiple miscarriages in the parents or grandparents of the patient.

A 10-year-old girl with coexistent moyamoya disease and Graves' disease.

There are rare reports of young women with moyamoya disease associated with Graves' disease; we are unaware of any previous reports of this association in prepubescent girls. We report a 10-year-old girl who presented with multiple bilateral strokes. Cerebral angiography demonstrated moderate to severe stenosis of her bilateral distal internal carotid arteries and proximal anterior and middle cerebral arteries, which was greater on the right.

Perinatal stroke in baby, prothrombotic gene in mom: does this affect maternal health insurance?

Background: Maternal prothrombotic disorders may contribute to stroke in the fetus before and during birth. Many of the mothers of children with perinatal stroke have no previous history of pathologic thrombosis.

Objective: To determine if finding the Factor V Leiden mutation, prothrombin 20210 G-A gene defect, or methylene tetrahydrofolate reductase C677T mutation in an asymptomatic mother of a child with perinatal stroke would affect that mother's ability to obtain health insurance.

A 9-year-old boy with a history of large perinatal stroke, infantile spasms, and high academic achievement.

The prognosis for intellectual development in children with symptomatic infantile spasms is usually poor. We report a 9-year-old boy with a history of a large, presumed perinatal, left middle cerebral artery infarct discovered when he developed infantile spasms at 6 months of age. The infantile spasms responded to treatment with adrenocorticotropic hormone.

Measuring gross motor recovery in young children with early brain injury.

Motor outcome measures may be used in both research and clinical practice. Although many motor outcome measures exist, only a small subset are suitable for use in children, and an even smaller subset is suitable for use in children under the age of 5 years who are undergoing rapid motor development. In this article, the issues involved in choosing an outcome measure are reviewed, and four of the most common gross motor outcomes measures used in young children are discussed.

Dysphagia in children: an overview.

Swallowing is a vital body function. It is important in maintaining optimal nutritional status. Dysphagia is any disturbance in swallowing.