scholarly journals Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

2021 ◽  
Vol 10 (7) ◽  
pp. 1523
Author(s):  
Paolo Alfieri ◽  
Cristina Caciolo ◽  
Giulia Lazzaro ◽  
Deny Menghini ◽  
Francesca Cumbo ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Adaptive Behavior ◽  
Adaptive Functioning ◽  
Significant Proportion ◽  
Assessment System ◽  
Cognitive Profile ◽  
Molecular Testing ◽  
Intelligence Scale ◽  
Verbal Comprehension ◽  
Kbg Syndrome

KBG syndrome (KBGS) is a rare Mendelian condition caused by heterozygous mutations in ANKRD11 or microdeletions in chromosome 16q24.3 encompassing the gene. KBGS is clinically variable, which makes its diagnosis difficult in a significant proportion of cases. The present study aims at delineating the cognitive profile and adaptive functioning of children and adolescents with KBGS. Twenty-four Italian KBGS with a confirmed diagnosis by molecular testing of the causative ANKRD11 gene were recruited to define both cognitive profile as measured by the Wechsler Intelligence Scale and adaptive functioning as measured by Vineland Adaptive Behavior Scales-II Edition or the Adaptive Behavior Assessment System-II Edition. Among children and adolescents, 17 showed intellectual disability, six presented borderline intellectual functioning and only one child did not show cognitive defects. Concerning cognitive profile, results revealed significant differences between the four indexes of Wechsler Intelligence Scale. Namely, the verbal comprehension index was significantly higher than the perceptual reasoning index, working memory index and the processing speed index. Concerning adaptive functioning, no difference between the domains was found. In conclusion, in our cohort, a heterogeneous profile has been documented in cognitive profiles, with a spike on verbal comprehension, while a flat-trend has emerged in adaptive functioning. Our cognitive and adaptive characterization drives professionals to set the best clinical supports, capturing the complexity and heterogeneity of this rare condition.

scholarly journals MBRS-73. AN EXPLORATORY ANALYSIS LOOKING AT THE ASSOCIATION OF GERMLINE CODING MUTATIONS WITH IMPAIRED DEVELOPMENT AND ADAPTIVE BEHAVIOR FUNCTION IN PEDIATRIC MEDULLOBLASTOMA PATIENTS TREATED ON HEAD START 4

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii411-iii411
Author(s):  
Jessica L Fleming ◽  
Blake E Sells ◽  
Erica H Bell ◽  
Joseph P McElroy ◽  
Amy Webb ◽  
...  
Keyword(s):  
Head Start ◽  
Adaptive Behavior ◽  
Molecular Mechanisms ◽  
Adaptive Functioning ◽  
Cell Communication ◽  
Assessment System ◽  
Germline Variants ◽  
Normal Tissues ◽  
Pediatric Medulloblastoma ◽  
Behavior Function

Abstract Children with brain tumors often carry germline mutations known to contribute to tumorigenesis and treatment response; however, little is known about how these mutations impact developmental and behavioral outcomes. As the molecular mechanisms governing cancerous and normal tissues expand, we hypothesize that specific germline variants may impact baseline neurocognitive function and/or treatment-induced toxicities. In this pilot study, ten children on the Head Start 4 (HS4) clinical trial diagnosed with medulloblastoma were assessed for baseline adaptive functioning using the Adaptive Behavior Assessment System Third Edition (ABAS-III) and germline whole-exome sequencing was performed. After filtering for high impact variants, Welch’s T-tests were used to identify mutations associated with lower ABAS-III General Adaptive Composite (GAC) scores, reflecting developmental and adaptive behavior delays compared with peers their age. We found twenty genes with alterations associated with lower scores with p-values less than 0.05. Genes found to be significant included LAMC1 (p=0.04) and KRTAP1-1 (p=0.045), which encode members of the laminin and keratin family respectively and are involved in extracellular matrix adhesion. Mutations in PITX1, a known suppressor of RAS, were also associated with lower ABAS-III GAC scores (p=0.007). We hypothesize that additional analyses of HS4 patients will reveal alterations in cell-to-cell communication and signal transduction pathways, common molecular perturbations in tumors that would likely impact central nervous system function. Validation studies are essential to improve our understanding of the functional impact of germline variants on both tumor and regular tissue biology, allowing for novel strategies to circumvent these delays.

scholarly journals NCOG-46. A PILOT STUDY OF GERMLINE CODING MUTATIONS ASSOCIATED WITH IMPAIRED DEVELOPMENT AND ADAPTIVE BEHAVIOR IN PEDIATRIC MEDULLOBLASTOMA PATIENTS TREATED ON HEAD START 4

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii139-ii139
Author(s):  
Blake Sells ◽  
Erica Bell ◽  
Jessica Fleming ◽  
Joseph McElroy ◽  
Amy Webb ◽  
...  
Keyword(s):  
Head Start ◽  
Adaptive Behavior ◽  
Molecular Mechanisms ◽  
Adaptive Functioning ◽  
Cell Communication ◽  
Germline Mutations ◽  
Assessment System ◽  
Future Research ◽  
Germline Variants ◽  
Pediatric Medulloblastoma

Abstract Children with brain tumors often carry germline mutations that have long been known to contribute to tumorigenesis and treatment response. However, less is known about how germline mutations may impact developmental and behavioral outcomes for children with tumors of the central nervous system (CNS). As the molecular mechanisms governing cancerous and normal tissue expand, we hypothesize that particular germline variants may impact baseline neurocognitive function and/or treatment-induced toxicities. In this preliminary study, 10 children on the Head Start 4 trial diagnosed with medulloblastoma were assessed for baseline adaptive functioning using the Adaptive Behavior Assessment System Third Edition (ABAS-III) and germline whole-exome sequencing was performed. After filtering for high impact variants, Welch’s T-tests were used to identify mutations associated with lower ABAS-III General Adaptive Composite (GAC) scores, reflecting developmental and adaptive behavior delays compared with peers their age. We found 20 genes with alterations associated with lower scores with P-values less than 0.05, although none met FDR significance cutoffs. Genes found to be significant included LAMC1 (P=0.04) and KRTAP1-1 (P=0.045), which encode members of the laminin and keratin family and are involved in extracellular matrix adhesion. Mutations in PITX1, a known suppressor of RAS, were also associated with lower ABAS-III GAC scores (P=0.007). We suspect that follow-up studies with more patients will reveal alterations in cell-to-cell communication and signal transduction pathways, as these are common molecular perturbations in tumors that would likely impact regular CNS function. Future research with larger cohorts is essential to validate these findings and to improve our understanding of the functional impact of germline variants on both tumor and regular tissue biology, allowing for a more comprehensive view of the spectrum of neurodevelopmental impairment and novel strategies to circumvent these impairments. Funding: Thrasher Research Fund (JF, AC). R01CA108633, RC2CA148190, U10CA180850(NCI), and OSUCCC (AC).

scholarly journals Motor skills predict adaptive behavior in autistic children and adolescents

2021 ◽  
Author(s):  
Nicholas E Fears ◽  
Stephanie A Palmer ◽  
Haylie L Miller
Keyword(s):  
Children And Adolescents ◽  
Motor Skills ◽  
Adaptive Behavior ◽  
Manual Dexterity ◽  
Full Scale ◽  
Autistic Children ◽  
Verbal Comprehension ◽  
Significant Difference ◽  
Perceptual Reasoning

There is a well-documented difference between IQ and adaptive behavior scores in autism, with autistic children having lower adaptive behavior scores than would be predicted based on their IQ scores. Differences in motor skills may explain the variability in their adaptive behavior scores. The current study examined how motor skills might explain autistic individuals’ low adaptive behavior scores and which individual components of IQ (i.e., verbal comprehension and perceptual reasoning) and motor skills (i.e., manual dexterity, aiming and catching, and balance) may drive this effect. We examined the relationships between IQ, motor skills, calibrated severity, and adaptive behavior scores in 45 autistic children and adolescents. We found a significant difference in the full-scale IQ and the adaptive behavior scores indicating that our participants’ adaptive behavior scores were lower than would be expected given their full-scale IQ. We investigated whether motor skills predicted adaptive behavior in autistic children and adolescents and found that motor skills scores were related to adaptive behavior scores. To further investigate these relationships, we examined how individual components of IQ and motor skills predicted adaptive behavior scores in autistic children and adolescents. Our results indicated that manual dexterity scores were related to adaptive behavior scores. These findings clearly illustrate the need for further understanding of autistic individuals’ difficulties with adaptive behavior and the potential role of motor skill difficulties that may underlie these difficulties.

scholarly journals The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 96
Author(s):  
Martina Siracusano ◽  
Eugenia Segatori ◽  
Assia Riccioni ◽  
Leonardo Emberti Gialloreti ◽  
Paolo Curatolo ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Behavioral Problems ◽  
Adaptive Functioning ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Assessment System ◽  
Spectrum Disorder ◽  
Adaptive Skills ◽  
The Impact

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study investigated the impact of the COVID-19 lockdown on adaptive functioning, behavioral problems, and repetitive behaviors of children with ASD. In a sample of 85 Italian ASD children (mean age 7 years old; 68 males, 17 females), through a comparison with a baseline evaluation performed during the months preceding COVID-19, we evaluated whether after the compulsory home confinement any improvement or worsening was reported by parents of ASD individuals using standardized instruments (Adaptive Behavior Assessment System (Second Edition), Achenbach Child Behavior Checklist, Repetitive Behavior Scale-Revised). No significant worsening in the adaptive functioning, problematic, and repetitive behaviors emerged after the compulsory home confinement. Within the schooler children, clinical stability was found in reference to both adaptive skills and behavioral aspects, whereas within preschoolers, a significant improvement in adaptive skills emerged and was related to the subsistence of web-delivered intervention, parental work continuance, and online support during the lockdown.

scholarly journals Executive Functions: Influence of Sex, Age and Its Relationship With Intelligence

2015 ◽  
Vol 25 (62) ◽  
pp. 383-392
Author(s):  
Larissa de Oliveira e Ferreira ◽  
Daniela Sacramento Zanini ◽  
Alessandra Gotuzo Seabra
Keyword(s):  
Working Memory ◽  
Executive Functions ◽  
Children And Adolescents ◽  
Perceptual Organization ◽  
Age Groups ◽  
Neuropsychiatric Disorders ◽  
Discriminative Power ◽  
Speed Of Processing ◽  
Intelligence Scale ◽  
Tower Of Hanoi

AbstractThe Tower of Hanoi is a tool used to evaluate executive functions. However, few studies describe what functions are evaluated in this test. This study investigates the executive functions, evaluated by the Tower of Hanoi (ToH), and the influence of gender, age and its relationship with intelligence. We evaluated 55 children and adolescents, between the ages of ten and 16, without diagnosed neuropsychiatric disorders. The results showed that the performance and time in to complete the Tower of Hanoi have no discriminative power when comparing age groups and sex; there was also no significant correlation found between the ToH and the execution quotient of the Wechsler Intelligence Scale for Children - Third Edition (WISC III), perceptual organization and the speed of processing. Only the subtest coding were positively related to the ToH, demonstrating that these instruments may be measuring related aspects of intelligence and executive functions, namely intelligence and working memory.

scholarly journals Adaptive Behavior in Children with Intellectual Disabilities

2020 ◽  
Vol 11 (6) ◽  
pp. 33
Author(s):  
Hazir Elshani ◽  
Eglantina Dervishi ◽  
Silva Ibrahimi ◽  
Altin Nika ◽  
Mimoza Maloku Kuqi
Keyword(s):  
Intellectual Disabilities ◽  
Adaptive Behavior ◽  
Adaptive Functioning ◽  
Vineland Adaptive Behavior Scales ◽  
Motor Abilities ◽  
Age Related ◽  
Significant Impairment ◽  
Raven's Standard Progressive Matrices ◽  
Living Skills ◽  
Independent Functioning

Children with intellectual disabilities experience deficits in all the areas of adaptive function and some other aspects, unfortunately little is known about the independent functioning among gender and age related to these impairments in this type of neurogenetic disorders as intellectual disabilities. Adaptive behavior is essential for an optimal functioning in these categories. 53 participants aged between 5 and 11 in school years have been administered the Vineland Adaptive Behavior Scales, Montreal Cognitive Assessment scale (MoCA) and Raven's Standard Progressive Matrices (IQ). Motor abilities are the area that is more affected in children with intellectual disabilities with a significant impairment appeared at an early age, which remain low even in the following years. These differences are potentially oriented by the etiologies related to the disorder. Adaptive behavior is an important area of challenge for children with intellectual disabilities throughout their development.  Daily living skills and competencies are also a significant strength in relation to other areas of adaptive functioning. 

scholarly journals Caregiver-mediated approaches to managing challenging behaviors in children with autism spectrum disorder

2013 ◽  
Vol 15 (2) ◽  
pp. 225-233
Keyword(s):  
Autism Spectrum Disorder ◽  
Children And Adolescents ◽  
Behavioral Interventions ◽  
Challenging Behaviors ◽  
Significant Proportion ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Children With Asd ◽  
Adolescents With Asd

A significant proportion of children with autism spectrum disorder (ASD) are referred to mental health centers due to the presence of challenging behaviors. Because challenging behaviors in children and adolescents with ASD often result from underlying social and communication difficulties and comorbid anxiety, traditional caregiver-mediated behavior intervention techniques developed for children with disruptive behavior disorders may need to be adapted for this population. Behavioral interventions that target communication skills, social skills, anxiety, and sensory responsiveness in children with ASD may be needed. Notably, while best practice necessitates the involvement of caregivers in treating children and adolescents with ASD, few randomized control studies have examined the effectiveness of caregiver-implemented interventions in reducing challenging behaviors. This review summarizes the current literature with regard to caregiver-mediated behavioral interventions for children with ASD, and suggests areas for intervention development and research.

Brief Report: Developmental Trajectories of Adaptive Behavior in Children and Adolescents with ASD

2018 ◽  
Vol 48 (8) ◽  
pp. 2870-2878 ◽  
Author(s):  
Allison T. Meyer ◽  
Patrick S. Powell ◽  
Nicole Butera ◽  
Mark R. Klinger ◽  
Laura G. Klinger
Keyword(s):  
Children And Adolescents ◽  
Adaptive Behavior ◽  
Developmental Trajectories ◽  
Adolescents With Asd

A-153 Neuropsychological Effects Assessed Using WISC-IV and WISC-V

2021 ◽  
Vol 36 (6) ◽  
pp. 1207-1207
Author(s):  
Saba Verani ◽  
Charles Golden
Keyword(s):  
Fourth Edition ◽  
Adult Intelligence Scale ◽  
Data Synthesis ◽  
Intelligence Scale ◽  
Verbal Comprehension ◽  
Neuropsychological Effects ◽  
Visual Spatial ◽  
Verbal Comprehension Index ◽  
Neurological Conditions ◽  
Medical Histories

Abstract Objective This review explores The Weschler Intelligence Scale for Children – Fourth Edition (WISC-IV) and the Weschler Intelligence Scale for Children – Fifth Edition (WISC-V) administered to children with various medical histories including traumatic brain injury, vascular conditions, brain tumor, epilepsy, strokes, sickle cell disease, down syndrome, and neurotoxicity on neurodevelopment. This review aims to explore neuropsychological effects of these medical conditions derived from final scores and scale comparisons. Data Selection Peer-reviewed studies between 2000 and 2020 were gathered from EBSCO, Google Scholar, and Science Direct. Criteria was limited to neurological conditions present in children, who were required to be assessed using either WISC-IV or WISC-V. Children with other developmental or learning disabilities were excluded. Data on Weschler Adult Intelligence Scale (WAIS) were excluded along with any other assessment administered to children. Thirteen articles were included based on the criteria along with two articles that discuss the validity of WISC. Data Synthesis The components of the WISC-IV or WISC-V demonstrated low average or below average scores on many scales, especially overall FSIQ. The largest impairments were present in Processing Speed Index, Verbal Comprehension Index, Working Memory Index, Visual Spatial Index, and overall FSIQ. All children assessed with preexisting neurological conditions demonstrated deficits in neuropsychological domains. The severity of the neurological condition significantly impacted scores when compared to children with no conditions. Conclusions The administration of WISC-IV and WISC-V demonstrated neuropsychological and functioning impairments in children with preexisting neurological conditions. The assessment successfully identified deficit areas and earlier testing can encourage earlier treatments.

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