A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial.

Background: Facial angiofibromas (FAs) are a major feature of tuberous sclerosis complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream formulation that protects rapamycin from oxidation has been developed in 0.

Impact of COVID-19 Pandemic-Associated Social Changes on Boys with Moderate to Severe Autism.

Objectives: The COVID-19 pandemic and the resulting social changes have made unprecedented changes in our lifetime with unknown repercussions on children with autism spectrum disorders. We sought to assess the effect of the COVID-19 pandemic and resulting social changes on boys with autism spectrum disorder.

Methods: We conducted a survey using the questionnaire of caregivers of a population of boys ( = 40) with moderate to severe autism spectrum disorder for changes in environment and behavior before and after the pandemic.

Spatial attention in children with perinatal stroke.

Spatial neglect is a common feature of right hemisphere damage in adults, but less is known about spatial inattention following early brain damage. We used a Posner-based cueing task to examine hemispatial neglect and aspects of attention in children with perinatal stroke in either left (LH) or right hemisphere (RH) and controls. A visual perception task assessed the speed of visual perception.

Longitudinal Stability of Spatial Inattention in Children With Perinatal Stroke.

Background: Signs of contralateral hemispatial inattention may be witnessed in children following perinatal brain infarcts (lesions), and evidence shows a pattern distinct from that in adults. This study is a longitudinal analysis of children with perinatal infarcts, with the goals of determining the pattern of inattention found in children with left or right hemisphere lesions and whether this pattern shows signs of change over time.

Methods: Twenty-one children with left hemishpere lesions, nine children with right hemisphere lesions, and 80 neurologically healthy control children were given the Infant and Toddler Neglect Task at two different time points.

Visual and verbal learning and memory in cystinosis.

Cystinosis is a rare genetic lysosomal storage disorder characterized by the accumulation of cystine in lysosomes. Many organ systems are vulnerable to this cystine accumulation including the CNS. A past study demonstrated that children with cystinosis have deficits in visual learning and memory while their verbal learning and memory and global intellectual function are spared (Spilkin, Ballantyne, & Trauner, 2009).

Hierarchical processing of visual stimuli in nephropathic cystinosis.

Previous studies have shown that individuals with cystinosis may exhibit difficulty with visuospatial tasks. Global and local (hierarchical) processing are specific types of visuospatial tasks mediated by the right and left parietal lobes respectively. The study objective was to determine whether individuals with cystinosis and carriers of the cystinosin gene mutation show deficits in global and/or local processing.

Auditory neglect in children following perinatal stroke.

Auditory neglect has been found in adults with right hemisphere focal brain lesions following strokes. Visual and tactile neglect has been found in children following both left and right hemisphere lesions resulting from perinatal strokes. The present cross-sectional study assessed auditory neglect in children with early unilateral brain damage from perinatal stroke.

Comparison of Spontaneously Elicited Language Patterns in Specific Language Impairment and High-Functioning Autism.

Background: We aimed to characterize differences in the use of language in children with specific language impairment and high-functioning autism by analyzing verbal responses on standardized tests. The overall goal was to provide clinicians with additional tools with which to aid in distinguishing the two neurodevelopmental disorders.

Materials And Methods: This study included 16 children with specific language impairment, 28 children with high-functioning autism, and 52 typically developing participants between the ages of six and 14.

Neuroanatomical correlates of emotion-processing in children with unilateral brain lesion: A preliminary study of limbic system organization.

In this study, MRI and DTI were employed to examine subcortical volume and microstructural properties (FA, MD) of the limbic network, and their relationships with affect discrimination in 13 FL (6 right FL, M = 10.17 years; 7 left FL; M = 10.09) and 13 typically-developing children (TD; M = 10.

Chiari I Malformation in Nephropathic Cystinosis.

Objective: To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population.

Study Design: Magnetic resonance imaging scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years.

Results: Ten of 53 (18.

Social functioning and autonomic nervous system sensitivity across vocal and musical emotion in Williams syndrome and autism spectrum disorder.

Both Williams syndrome (WS) and autism spectrum disorders (ASD) are associated with unusual auditory phenotypes with respect to processing vocal and musical stimuli, which may be shaped by the atypical social profiles that characterize the syndromes. Autonomic nervous system (ANS) reactivity to vocal and musical emotional stimuli was examined in 12 children with WS, 17 children with ASD, and 20 typically developing (TD) children, and related to their level of social functioning. The results of this small-scale study showed that after controlling for between-group differences in cognitive ability, all groups showed similar emotion identification performance across conditions.

Clock drawing in children with perinatal stroke.

Background: Children with perinatal stroke may show evidence of contralateral spatial neglect. The goal of this study was to determine whether the Clock Drawing Test commonly used in adults to identify neglect would be effective in detecting neglect in children with perinatal stroke.

Methods: Thirty-eight individuals (age range 6-21 years) with left hemisphere or right hemisphere perinatal onset unilateral lesions and 179 age-matched controls were given a free-drawn Clock Drawing Test in a cross-sectional design.

Patterns of Sensitivity to Emotion in Children with Williams Syndrome and Autism: Relations Between Autonomic Nervous System Reactivity and Social Functioning.

Williams syndrome (WS) and autism spectrum disorder (ASD) are associated with atypical social-emotional functioning. Affective visual stimuli were used to assess autonomic reactivity and emotion identification, and the social responsiveness scale was used to determine the level social functioning in children with WS and ASD contrasted with typical development (TD), to examine syndrome-specific and syndrome-general features. Children with ASD exhibited the highest arousal in response to faces, with a lack of difference in autonomic sensitivity across different emotional expressions, unlike in WS and TD.

Behavioral correlates of epileptiform abnormalities in autism.

There is a high incidence of epileptiform abnormalities in children with autism even in the absence of clinical seizures. These findings are most prominent during sleep recordings. The significance of these abnormalities is unclear.

Nephropathic cystinosis: an international consensus document.

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children.

Face and location processing in children with early unilateral brain injury.

Human visuospatial functions are commonly divided into those dependent on the ventral visual stream (ventral occipitotemporal regions), which allows for processing the 'what' of an object, and the dorsal visual stream (dorsal occipitoparietal regions), which allows for processing 'where' an object is in space. Information about the development of each of the two streams has been accumulating, but very little is known about the effects of injury, particularly very early injury, on this developmental process. Using a set of computerized dorsal and ventral stream tasks matched for stimuli, required response, and difficulty (for typically-developing individuals), we sought to compare the differential effects of injury to the two systems by examining performance in individuals with perinatal brain injury (PBI), who present with selective deficits in visuospatial processing from a young age.

Hippocampal volume and memory performance in children with perinatal stroke.

Background: Pediatric neurologists and neonatologists often are asked to predict cognitive outcome after perinatal brain injury (including likely memory and learning outcomes). However, relatively few data exist on how accurate predictions can be made. Furthermore, although the consequences of brain injury on hippocampal volume and memory performance have been studied extensively in adults, little work has been done in children.

Incidence and behavioral correlates of epileptiform abnormalities in autism spectrum disorders.

Autism spectrum disorders (ASD) are associated with an increased incidence of epilepsy and of epileptiform discharges on electroencephalograms. It is unknown whether epileptiform discharges correlate with symptoms of ASD. We completed a retrospective chart review of 101 patients with ASD who had overnight electroencephalograms.

Early language development after peri-natal stroke.

Early unilateral brain damage has different implications for language development than does similar damage in adults, given the plasticity of the developing brain. The goal of this study was to examine early markers of language and gesture at 12 and 24months in children who had peri-natal right hemisphere (RH) or left hemisphere (LH) stroke (n=71), compared with typically developing controls (n=126). Parents completed the MacArthur-Bates Communicative Development Inventory (CDI): Words & Gestures (12month data point), or the CDI: Words & Sentences (24month data point).

Executive function in nephropathic cystinosis.

Objective: We studied executive function (EF) in children and adolescents with cystinosis.

Background: Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.