Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation

Summary

The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.

Conditions

• CTNNB1 Gene Mutation

Interventions

DIAGNOSTIC_TEST

The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F)

The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F; Robins, Fein, \& Barton, 2009) is a 2-stage parent-report screening tool to assess risk for Autism Spectrum Disorder (ASD). It is valid for children 16-30 months old.

DIAGNOSTIC_TEST

The Autism Spectrum Quotient-Children's Version (AQ-Child)

The Autism Spectrum Quotient-Children's Version (AQ-Child; Auyeung, Baron-Cohen, Wheelwright \& Allison, 2008) is a parent-report questionnaire that aims to quantify autistic traits in children 4-11 years old. It contains 50 likert-type items with responses ranging from "definitely agree" to "definitely disagree".

DIAGNOSTIC_TEST

The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)

The Autism Spectrum Quotient-Children's Version (AQ-Child; Auyeung, Baron-Cohen, Wheelwright \& Allison, 2008) is a parent-report questionnaire that aims to quantify autistic traits in children 12-15 years old. It contains 50 likert-type items with responses ranging from "definitely agree" to "definitely disagree".

DIAGNOSTIC_TEST

The Viking's Speech Scale

The Viking Speech Scale (Pennington, Virella, Mjøen, da Graça Andrada, Murray, Colver, … \& Andersen, 2013) is used to classify children's speech production, specifically the ease at which children can make themselves understood using different methods of communication. The scale has four levels and is ordinal. The four levels include: (1) speech is not affected by motor disorder (2) speech is imprecise but usually understandable to unfamiliar listeners (3) speech is unclear and not usually understandable to unfamiliar listeners out of context (3) no understandable speech. It is intended for children above the age of 4 years.

DIAGNOSTIC_TEST

The Functional Communication Classification System (FCCS)

The Functional Communication Classification System (Barty, Caynes \& Johnston, 2016) was designed to classify how children with cerebral palsy communicate on a daily basis. The tool focuses on how children typically communicate with familiar and unfamiliar communication partners. There are five classifications a child can be categorized in: (1) effective communicator in most situations (2) effective communicator in most situations, but does need some help (3) an effective communicator in most situations and can communicate small ranges of messages and topics to most familiar people (4) assistance is required in most situations, especially with unfamiliar people and environments. Communicates daily needs and wants to familiar people (5) communicates using undirected movement, vocalisation and/or behaviour, for interpretation by familiar people. The FCCS is valid for use in children up to 13 years.

DIAGNOSTIC_TEST

Brief Infant Sleeping Questionnaire (BISQ)

The Brief Infant Sleep Questionnaire (BISQ; Sadeh, 2004) is used to assess sleep patterns, parent perception, and sleep-related behaviors in young children (0-36 months). The BISQ has been validated against actigraphy, daily logs, and has high sensitivity in documenting expected developmental trends in sleep.

DIAGNOSTIC_TEST

Pediatric Sleep Questionnaire (PSQ)

Pediatric Sleep Questionnaire (PSQ; Chervin, Hedger, Dillon, Pituch, 2000) has been designed to screen for sleep problems in children. The scale consists of 22 parent-reported items examining snoring and breathing problems, daytime sleepiness, inattention, hyperactivity, and other signs and symptoms of apnea including obesity and nocturnal enuresis. Those questions specifically relate to sleep-disordered breathing (SDB) in children. PSQ has been validated for children 2-18 years old.

DIAGNOSTIC_TEST

The Eating and Drinking Ability Classification System (EDACS)

The Eating and Drinking Ability Classification System (EDACS; Sellers, Mandy, Pennington, Hankins, Morris, 2013) has been developed for people with cerebral palsy to describe five distinct levels of ability using the key features of safety and efficiency. The patient can be categorized in: (1) eats and drinks safely and efficiently, (2) eats and drinks safely but with some limitations to efficiency, (3) eats and drinks with some limitations to safety; maybe limitations to efficiency, (4) eats and drinks with significant limitations to safety or (5) unable to eat or drink safely - tube feeding may be considered to provide nutrition. The EDACS is valid for use in children above the age of 36 months.

DIAGNOSTIC_TEST

Mini Manual Ability Classification System (Mini-MACS)

The Mini Manual Ability Classification System (Mini-MACS; Eliasson, Krumlinde-Sundholm, 2013) describes how children with cerebral palsy use their hands to handle objects in daily activities. MACS describes five levels. The levels are based on the children's self-initiated ability to handle objects and their need for assistance or adaptation to perform manual activities in everyday life. It has been validated for children 1-4 years of age.

DIAGNOSTIC_TEST

Manual Ability Classification System (MACS)

The Manual Ability Classification System (MACS; Eliasson, Krumlinde Sundholm, Rösblad, Beckung, Arner, Öhrvall, Rosenbaum, 2006) describes how children with cerebral palsy use their hands to handle objects in daily activities. MACS describes five levels. The levels are based on the children's self-initiated ability to handle objects and their need for assistance or adaptation to perform manual activities in everyday life. It has been validated for children 4-18 years.

DIAGNOSTIC_TEST

The Gross Motor Function Classification System - Expanded and Revised (GMFCS - E&R)

The Gross Motor Function Classification System - Expanded \& Revised (GMFCS - E\&R; Palisano, Rosenbaum, Bartlett, Livingston, 2007) is a 5-level classification system that describes the gross motor function of children and youth with cerebral palsy on the basis of their self-initiated movement with particular emphasis on sitting, walking, and wheeled mobility. Distinctions between levels are based on functional abilities, the need for assistive technology, including hand-held mobility devices (walkers, crutches, or canes) or wheeled mobility, and to a much lesser extent, quality of movement. The questionnaire is available for four age groups of children and youth: 2 to \< 4 years, 4 to \< 6 years, 6 to \< 12 years, and 12 to 18 years.

DIAGNOSTIC_TEST

The Visual Function Classification System (VFCS)

The Visual Function Classification System (Baranello et al, 2019) is a valid and reliable 5-level classification system of visual functioning for children with Cerebral Palsy. It describes the use of visual abilities in daily life, focusing on activity and participation.

DIAGNOSTIC_TEST

The Early Childhood Oral Health Impact Scale (ECOHIS)

The ECOHIS measures the impact of oral problems and/or experience of dental treatment on the quality of life in children under 5 years old and their parents or other family members. It has 13 questions divided into two domains: one related to impact on the child (9 questions), and another to impact on the family (4 questions), measured using the Likert scale. In children with cerebral palsy and/or the ECOHIS has been validated for ages up to 6,5 years, in children with intellectual disability for ages up to 5 years and in children with special need for ages up to 9 years.

DIAGNOSTIC_TEST

The Family Impact Scale (FIS)

The FIS evaluates the impact of a child's oral condition on family life. It consists of 14 items divided into three subscales: parental/family activity (PA), parental emotions (PE), and family conflict (FC). The financial burden subscale (FB) is the only one that is evaluated separately, since it comprises a single item and addresses economic rather than psychosocial or behavioural impact. It has been validated for children above the age of 12 years.

DIAGNOSTIC_TEST

The Achenbach System of Empirically Based Assessment (ASEBA)

The Achenbach System of Empirically Based Assessment (ASEBA; Achenbach) is a collection of questionnaires used to assess adaptive and maladaptive behavior and overall functioning in individuals. The system includes report forms for multiple informants - the Child Behavior Checklist (CBCL) is used for caregivers to fill out ratings of their child's behavior, the Youth Self Report Form (YSR) is used for children to rate their own behavior, and the Teacher Report Form (TRF) is used for teachers to rate their pupil's behavior. The ASEBA seeks to capture consistencies or variations in behavior across different situations and with different interaction partners. The ASEBA exists for multiple age groups, including preschool-aged children, school-aged children, adults, and older adults. Scores for individuals in each age group are norm-referenced.

DIAGNOSTIC_TEST

Adaptive Behavior Assessment System Third Edition (ABAS-3)

The ABAS-3 (Harrison, Oakland, 2015) is a rating scale useful for assessing skills of daily living in individuals with developmental delays, autism spectrum disorder, intellectual disability, learning disabilities, neuropsychological disorders, and sensory or physical impairments. Rating forms are filled out by the parent and a teacher. The ABAS-3 covers three broad domains: conceptual, social, and practical, using 11 skill areas within these domains. Tasks focus on everyday activities required to function, meet environmental demands, care for oneself, and interact with others effectively and independently. On a 4-point response scale, raters indicate whether, and how frequently, the individual performs each activity.

Sponsors & Collaborators

• University of Ljubljana, Faculty of Medicine

  collaborator OTHER

• National Institute of Chemistry, Ljubljana, Slovenia

  collaborator UNKNOWN

• Children's Medical Research Institute, Westmead, Australia

  collaborator UNKNOWN

• The University of Sydney, Sydney, Australia

  collaborator UNKNOWN

• University Medical Centre Ljubljana

  lead OTHER

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-03-01

Primary Completion

2022-09-01

Completion

2022-11-01

Countries

• Australia
• Slovenia

Study Locations