Females experience a more severe disease course in batten disease
behavior; tone and motor; NCL3; trajectory; characteristics
Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. Studies on sex differences in JNCL have yielded mixed results, but parent anecdotes suggest that females experience a more precipitous disease course. Therefore, we sought to determine if sex-based differences exist in JNCL. We used data from the Unified Batten Disease Rating Scale (UBDRS), the Batten Disease Support and Research Association (BDSRA) database, and the PedsQL quality of life (QoL) survey to evaluate sex-based differences in functional independence and time from symptom onset to death. On average, females had JNCL symptom onset one year later and death one year earlier than did males. Despite a later age at onset, females had lower functional capability, earlier loss of independent function, and lower physical QoL. Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies. © SSIEM and Springer 2011.
Cialone J; Adams H; Augustine E F; Marshall F J; Kwon J M; Newhouse N; Vierhile A; Levy E; Dure L S; Rose K R; Ramirez-Montealegre D; De Blieck E A; Mink J W
Journal of Inherited Metabolic Disease
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s10545-011-9421-6" target="_blank" rel="noreferrer noopener">10.1007/s10545-011-9421-6</a>
Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening
behaviour; tone and motor; glutaric acidemia type I; trajectory; characteristics
Beauchamp M H; Boneh A; Anderson V
Journal of Inherited Metabolic Disease
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s10545-009-1167-z" target="_blank" rel="noreferrer noopener">10.1007/s10545-009-1167-z</a>
Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome
cognitive; Genetics & Heredity; phenotype; features; functioning; HRAS; longitudinal assessment; MAP kinase pathway; p.G12A; p.G12S; p.G13C; p.T581; behavioral; tone and motor; costello syndrome; trajectory; characteristics; disability
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 individuals with Costello syndrome, nine males and nine females, and longitudinal development for 11 who had previous testing. The overall IQ, ranging from severe mental retardation to the average range, with a mean in the mildly mentally retarded range, was again found to be stable, but an interesting pattern in the development of nonverbal FR was identified. Participants showed an improvement in nonverbal FR, followed by stable skills thereafter, suggesting a "late bloomer" effect in late childhood/early adolescence. Overall adaptive functioning fell into the range of Intellectual Disability for 70% of subjects, with Socialization as a relative strength and Daily Living Skills an area of relative difficulty. Interestingly, females were found to be higher functioning than males in all domains, including Communication, Daily Living Skills and Socialization. Caregivers reported significantly more behavioral concerns in males, including internalizing, externalizing, and other maladaptive behaviors. In contrast, no gender differences were found in cognitive or visuomotor functioning. (C) 2009 Wiley-Liss, Inc.
Axelrad M E; Schwartz D D; Fehlis J E; Hopkins E; Stabley D L; Sol-Church K; Gripp K W
American Journal of Medical Genetics Part A
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.33126" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.33126</a>
Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
Genetics & Heredity; brachmann-delange syndrome; individuals; phenotype; Psychiatry; language-skills; AAC (augmentative and alternative communication); ability; autistic behavior; CdLS; delange cornelia; intellectual disability (ID); morphosyntactic; normal intelligence; behavioral symptoms; behavior; tone and motor; De Lange syndrome; trajectory; characteristics; externalizing behavior
In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans. (c) 2014 Wiley Periodicals, Inc.
Ajmone P F; Rigamonti C; Dall'Ara F; Monti F; Vizziello P; Milani D; Cereda A; Selicorni A; Costantino A
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2014
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.b.32224" target="_blank" rel="noreferrer noopener">10.1002/ajmg.b.32224</a>
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Deglutition; disorders; girls; phenotype; dysfunction; mecp2 mutations; Classical Rett syndrome; Dysphagia; Early Pseudostationary stage; Fluoroscopy; genotype; Otorhinolaryngology; Swallowing; Videofluoroscopic study of swallowing; women; feeding difficulties; tone and motor; Rett syndrome; trajectory; characteristics; dysmotility; dystonia; dyskinesia
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
Abraham S S; Taragin B; Djukic A
Dysphagia
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s00455-014-9587-9" target="_blank" rel="noreferrer noopener">10.1007/s00455-014-9587-9</a>