Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness.

Background: The present study aimed to test the hypothesis stating that the cognitive potential of individuals with deafblindness is equal to those without a deafblind condition, an assumption that until now has been empirically unsubstantiated within the field of deafblindness.

Methods: To explore the assumption, 15 children and adolescents with CHARGE underwent cognitive assessment with WISC-V using a sequential two-level assessment design. The 1st level involved standardized test conditions.

Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model.

Purpose: To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions.

Methods: A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues.

The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome.

Aim: This paper aimed to answer how psychometric methods based on neurotypical populations can serve as valid instruments in the assessment and diagnosis of intellectual disability in individuals with atypical development. The genetic, structural, and functional features of CHARGE make it uniquely suited to address this question.

Method: A Norwegian population of individuals with CHARGE ( = 35) underwent assessment procedures according to DSM-5 guidelines for the evaluation of an intellectual disability diagnosis.

The development of an educational checklist for individuals with CHARGE syndrome.

CHARGE syndrome is a rare genetic disorder which can impact every sensory system and is often associated with significant medical, communicative, developmental, and behavioral difficulties. Due to the rarity and complexity of CHARGE syndrome, educators often lack the expertise required to effectively understand and accommodate the needs of these students. Therefore, an educational checklist (i.

Identifying pain in children with CHARGE syndrome.

Background and aims The objective was to conduct the first investigation to identify the frequency and intensity of pain experiences for individuals with CHARGE syndrome and to review the use of two established non-vocal pain assessments with children with CHARGE, the NCCPC-R (Non-Communicating Children's Pain Checklist-Revised) and the PPP (Pediatrics Pain Profile). Methods Parents of children with CHARGE were enrolled. Participants completed a pain questionnaire and the NCCPC-R and PPP twice, once for a baseline measure and second during a painful experience for their child.

Behavior in CHARGE syndrome.

Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question of common sources for these behaviors.

Social-Emotional Development in Children and Youth Who Are Deafblind.

Social-emotional development is important to personal adjustment and well-being. Little has been written about social-emotional development in children and youth who are deafblind. The authors discuss factors in typical social-emotional development-attachment, empathy, and friendships-and how they may be challenged in children who are deaf-blind.

Quality of life in adolescents and adults with CHARGE syndrome.

Health-related Quality of Life and the Impact of Childhood Neurologic Disability Scale were collected for 53 patients with CHARGE syndrome aged 13-39 years with a mean academic level of 4th grade. The most prevalent new and ongoing issues included bone health issues, sleep apnea, retinal detachment, anxiety, and aggression. Sleep issues were significantly correlated with anxiety, self-abuse, conduct problems, and autistic-like behaviors.

12th International CHARGE syndrome conference proceedings.

The CHARGE Syndrome Foundation holds an International conference for families and professionals every other summer. In July, 2015, the 12th meeting was held in Schaumburg, Illinois, at the Renaissance Schaumburg Hotel. Day one of the 4-day conference was dedicated to professionals caring for and researching various aspects of CHARGE, including education, medical management, animal models, and stem cell-based approaches to understanding and treating individuals with CHARGE.

Shear wave elastography imaging of carotid plaques: feasible, reproducible and of clinical potential.

Background: Shear Wave Elastography (SWE) imaging is a novel ultrasound technique for quantifying tissue elasticity. Studies have demonstrated that SWE is able to differentiate between diseased and normal tissue in a wide range clinical applications. However its applicability to atherosclerotic carotid disease has not been established.

Quantitative assessment of carotid plaque surface irregularities and correlation to cerebrovascular symptoms.

Background: The purpose of this study was to determine whether surface irregularities measured from ultrasound images of carotid artery plaques and quantified using a novel method, correlate with the presence of ipsilateral hemispheric cerebrovascular symptoms.

Methods: A plaque surface irregularity index (SII) was measured in 47 carotid artery plaques (32 subjects, stenosis range 10% -95%, 49% symptomatic) using ultrasound image sequences spanning several cardiac cycles. The differences in the distribution of SII in plaques with ipsilateral hemispheric symptoms versus those without symptoms and the correlation between the SII of plaques and the degrees of stenosis of the corresponding arteries were assessed.

Wall motion in the stenotic carotid artery: association with greyscale plaque characteristics, the degree of stenosis and cerebrovascular symptoms.

Background: Systolic dilation of the atherosclerotic carotid artery depends on several factors including arterial compliance and the haemodynamic environment. The purpose of this study was to quantify wall motion in stenotic carotid arteries and investigate any associations with the ultrasound greyscale plaque characteristics, the degree of stenosis, and the presence of cerebrovascular symptoms.

Methods: Variations in the lumen diameters of 61 stenotic carotid arteries (stenosis range 10%-95%) from 47 patients were measured before the proximal shoulder of the atherosclerotic plaque using ultrasound image sequences over several cardiac cycles.

Dynamic variations in the ultrasound greyscale median of carotid artery plaques.

Background: Several studies have found that the ultrasound greyscale median (GSM) of carotid artery plaques may be useful for predicting the risk of cerebrovascular events. However, measurements of GSM are typically performed on still ultrasound images ignoring any variations that may be observed on a frame-by-frame basis. The aim of this study was to establish the existence and investigate the nature and extent of these variations.

Prevalence of genetic testing in CHARGE syndrome.

Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation.

Postoperative airway events of individuals with CHARGE syndrome.

Objective: CHARGE syndrome is a heterogeneous genetic disorder comprising multiple congenital anomalies. Major clinical diagnostic criteria include ocular coloboma, choanal atresia/stenosis, characteristic ear abnormalities, and cranial nerve abnormalities. CHARGE syndrome is caused by a mutation in the gene CHD7 located on chromosome 8.

Sleep disturbances in CHARGE syndrome: types and relationships with behavior and caregiver well-being.

Children with CHARGE syndrome frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Anecdotal reports have indicated that sleep is also affected. However, the prevalence and types of sleep disturbance have not been identified.

Cranial nerve manifestations in CHARGE syndrome.

Cranial nerve (CN) anomalies have been regarded as a major criterion for a clinical diagnosis of CHARGE syndrome for some time. However, there have been relatively few studies of the extent of this involvement. A detailed questionnaire (in French or English) was distributed to all physicians who participated in the 2001-2004 Canadian Paediatric Surveillance Program (CPSP), and who identified themselves as caring for an individual with CHARGE syndrome.

Executive function in CHARGE syndrome.

This study addressed the presence of executive dysfunction in children with CHARGE syndrome, a genetic disorder with multiple physical anomalies and severe challenging behaviors. Ninety-eight children were included in the study. More than half received clinically significant scores on the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al.

Autistic-like behavior in CHARGE syndrome.

Children with CHARGE syndrome frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and autism. Hartshorne and Cypher (2004) surveyed parents of 100 children with CHARGE worldwide and confirmed the prevalence of behaviors that are associated with these disorders. They also found behaviors that could be described as typical of persons who are deafblind.

Behavior in CHARGE syndrome: introduction to the special topic.

Challenging behavior in children with CHARGE syndrome has been increasingly a concern of parents, educators, and health professionals. This article introduces the special topic in the American Journal of Medical Genetics on behavior in individuals with CHARGE syndrome. It provides background on CHARGE syndrome, diagnostic criteria, and the relationship of sensory and other physical deficits with both development and behavior.