ABSTRACT
BACKGROUND: Many children experience delayed or missed identification of an intellectual disability diagnosis, meaning that key opportunities for early educational intervention may be lost. METHODS: Semi-structured interviews were used to explore the views of teachers, parents, and clinicians (n = 22), about the use of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) and what could improve screening and identification of intellectual disability in schools. Thematic analysis was used to identify relevant themes. RESULTS: Three themes were identified: the need for, and role of, screening in the context of limited knowledge about intellectual disability; the impact of screening and subsequent identification of intellectual disability; and the context within which participants felt screening should take place in order to maximise its benefits. CONCLUSIONS: The results confirmed the importance and benefits of timely identification of children with an intellectual disability and the positive role that screening might play in this.
Subject(s)
Intellectual Disability , Child , Adolescent , Humans , Intellectual Disability/diagnosis , Mass Screening/methods , Schools , Qualitative Research , Surveys and QuestionnairesABSTRACT
BACKGROUND: We explored the accuracy of using the learning disability screening questionnaire (LDSQ) in services for people experiencing homelessness in the United Kingdom. METHOD: We examined the concordance between the LDSQ outcomes and assessments of intellectual disability. Seventy adults experiencing homelessness completed the LDSQ. Staff completed the LDSQ and a measure of adaptive functioning for 38 of this group. Nine participants received an intellectual assessment. RESULTS: Sensitivity and specificity for the LDSQ when completed by staff was 83% and 96% respectively and 50% and 92% when completed by the individual. Seven people had intellectual and adaptive functioning in the intellectual disability range. CONCLUSION: The results suggest that the LDSQ would be an appropriate and beneficial screening tool to use within services for people experiencing homelessness. More accurate results would be likely if it were completed by staff.
Subject(s)
Ill-Housed Persons , Intellectual Disability , Learning Disabilities , Adult , Humans , Intellectual Disability/diagnosis , Surveys and Questionnaires , Sensitivity and Specificity , Learning Disabilities/diagnosisABSTRACT
AIMS: People with a learning disability are at increased risk of becoming homeless, but little is known about how learning disability is viewed by people accessing homeless services. This study aimed to obtain the views of people experiencing homelessness about learning disability, in the context of a project that was exploring how to increase identification of learning disability. METHODS: A qualitative approach was used, and 19 adults were interviewed who were receiving support from homeless services in the North-East of England. Information from the interviews was analysed using thematic analysis. RESULTS: Four themes were identified relating to understanding of learning disability, the role of identification, day-to-day challenges, and experiences of services. CONCLUSION: There is a need to: promote better understanding of learning disability; for early identification processes that involve the person in a meaningful way; and the provision of support that is non-stigmatising, practical and which addresses health concerns.
ABSTRACT
Studies of non-autistic individuals and people with an intellectual disability show that contextual information impacts positively on emotion recognition ability, however, this area is not well researched with autistic adults. We investigated this using a static emotion recognition task. Participants completed an emotion recognition task in person or online. In total, 46 autistic participants and 379 non-autistic participants completed the task. A linear mixed model showed that autistic adults had significantly lower accuracy when identifying emotions across all contexts, compared to control participants, even when contextual information was present. No significant effect of context was found in either group, nor was gender shown to be an influential variable. A supplementary analysis showed that higher scores on the Autism-Spectrum Quotient led to lower scores on the emotion recognition task; no effect of context was found here either. This research adds to the limited work investigating the influence of contextual factors in emotion recognition in autistic adults. Overall, it shows that context may not aid emotion recognition in this group in the same way as it does for non-autistic individuals.
Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Adult , Autism Spectrum Disorder/psychology , Autistic Disorder/psychology , Data Collection , Emotions , Facial Expression , HumansABSTRACT
Previous research has provided evidence for developmental cascades between externalizing and internalizing problems via mechanisms such as peer and academic problems; however, there remains a need to illuminate other key mediating processes that could serve as intervention targets. This study, thus, evaluated whether developmental associations between aggression and internalizing are mediated by teacher-as well as peer-relationships. Using data from z-proso, a longitudinal study of Swiss youth (n = 1523; 785 males), an autoregressive latent trajectory model with structured residuals (ALT-SR) was fit over ages 11, 13, and 15 to examine within-person developmental links between aggression, internalizing problems, and the mediating role of peer and teacher relationships, while disaggregating between- and within-person effects. Teacher and peer relationships did not play a role in the progression of externalizing to internalizing problems or vice versa, however, teacher and peer relationships showed a protective effect against developing internalizing problems at ages 13. The results suggest that good quality relationships with teachers in early adolescence can help prevent internalizing problems from developing.
Subject(s)
Aggression , Peer Group , Adolescent , Child , Humans , Longitudinal Studies , MaleABSTRACT
BACKGROUND: Therapeutic untruths (TU) are used in dementia services to de-escalate distressing situations. The present authors explored the use of TU by care staff supporting people with an intellectual disability who displayed behaviours that challenged. METHOD: Data were collected from 126 staff (female = 72.2%; mean age = 41.9 years, SD = 10.7) via an online survey in relation to three areas: responses to three scenarios, reported use of different forms of TU and ratings of perceived effectiveness of, and level of comfort using, each type. RESULTS: 96% of participants reported using TU themselves and observing their colleagues doing likewise. Models that included perceived effectiveness of, and level of staff comfort with using, different TU were significant, although only perceived effectiveness significantly independently contributed to the model. CONCLUSION: The use of TU was common, with levels consistent with those found in dementia services. The limitations and implications of the findings are discussed.
Subject(s)
Intellectual Disability , Female , Humans , Infant, Newborn , Intellectual Disability/therapy , Surveys and QuestionnairesABSTRACT
BACKGROUND: We used a qualitative approach to explore the experiences of social care staff regarding the provision of positive behavioural support (PBS) to people with an intellectual disability at the height of the Covid-19 restrictions. METHOD: We conducted semi-structured interviews with 19 staff who had recently completed a PBS workforce development programme. Data were analysed using thematic analysis. RESULTS: Three themes were identified in the context of the restrictions: The challenges to maintaining quality of life and PBS of the people being supported and staff attempts to overcome these; the ways in which PBS and behaviour support plans were implemented and the impact on behaviours that challenge; the ways in which PBS principles were applied at organisational levels to help to understand and address staff stress and distress. CONCLUSIONS: Overall, the staff identified many unexpected benefits of the restrictions. The results are discussed in the context of the study limitations.
Subject(s)
Autistic Disorder/psychology , Behavior Therapy , COVID-19/psychology , Intellectual Disability/psychology , Autistic Disorder/therapy , COVID-19/epidemiology , Humans , Intellectual Disability/therapy , Interviews as Topic , Physical Distancing , Qualitative Research , Quality of Life , SARS-CoV-2 , Social Isolation/psychologyABSTRACT
BACKGROUND: Research suggests that providing staff with input in relation to Positive Behavioural Support (PBS) can have beneficial outcomes. Much of this research, however, fails to take account of systemic issues and does not include a control group. METHOD: We used a non-randomised, controlled group design to evaluate accredited PBS programmes, delivered as part of a systemic, regional and workforce development approach. We compared outcomes of those attending the programmes (n = 240) with a control group (n = 54), pre- and post-intervention and at 3-months follow-up. RESULTS: The programme and its wider impact were rated positively. Significant intervention effects were found for staff practice and retention, but not for staff knowledge and attributions, or behaviours that challenge and quality of life of those being supported. CONCLUSIONS: The results are discussed in the context of the study limitations and restrictions resulting from the Covid-19 pandemic.
Subject(s)
COVID-19 , Intellectual Disability , Humans , Pandemics , Quality of Life , SARS-CoV-2 , WorkforceABSTRACT
BACKGROUND: Concern about the poor care of some people with an intellectual disability has highlighted the need for systemic, large-scale interventions to develop a skilled workforce. METHOD: We outline how an implementation science theoretical model informed the development of a region-wide Positive Behavioural Support (PBS) Workforce Development (WFD) approach. RESULTS: We provide an example of the application of the model in practice and demonstrate how this enabled us to understand the competencies and development needs of the workforce; engage effectively with stakeholders; and develop, deliver and evaluate a PBS WFD model. CONCLUSION: The application of the model helped us to identify, prioritise, and address the multiple and complex factors that were relevant to the implementation of the PBS WFD approach.
Subject(s)
Implementation Science , Intellectual Disability , Humans , Staff Development , WorkforceABSTRACT
BACKGROUND: The use of therapeutic untruths raises a number of ethical issues, which have begun to be explored to some extent, particularly in dementia care services, where their use has been found to be high. Little is known, however, about their use by health professionals working in learning disability services. RESEARCH QUESTION: The study aimed to explore the frequency of use of therapeutic untruths by student learning disability nurses, and by their colleagues; how effective the students perceived them to be as a means of responding to behaviours that challenge; and their level of comfort with using them. RESEARCH DESIGN: A correlational design was used to gather data from an online version of the Best Interest Scale, adapted for a learning disability context. Participants were 30 learning disability student nurses (female = 28, ages 18-48 years, M = 26.8, standard deviation = 7.3) studying at a university in the North-East of England. ETHICAL CONSIDERATIONS: The study was reviewed and received ethical approval from the first author's university ethics committee. FINDINGS: Overall, 96% of participants reported using therapeutic untruths. 'Omission' was the most frequently used type of therapeutic untruths, the most effective and the type that the students felt most comfortable using. Frequency of use of therapeutic untruths correlated significantly and positively with perceived effectiveness and the level of comfort that the students felt when using them, for all types of therapeutic untruths. CONCLUSION: The use of therapeutic untruths by the student nurses was consistent with that found in research in dementia care services in the United Kingdom and abroad. Further research to explore the generalisability of the results to the wider context of learning disability services is needed. The study highlights that there may be a need for more formal guidance and educational input to student nurses in the use of therapeutic untruths with people with a learning disability.
ABSTRACT
BACKGROUND: One contributor to the health inequalities that people with an intellectual disability face is failure to identify their intellectual disability. The Learning Disability Screening Questionnaire (LDSQ) can identify adults who are likely to have an intellectual disability, but little is known about its impact. METHODS: A modified Delphi approach (literature search, interviews with staff and those using services [n = 28], and completion of an online survey by professionals [n = 29]) was used to develop a framework to evaluate the impact of the LDSQ. RESULTS: Items endorsed by 60% or more of respondents (9/18) were included in the final framework. These all related to benefits of the LDSQ, including identifying people not previously known to have an intellectual disability; helping prioritize diagnostic assessment; informing support needs; and helping increase wellbeing and life chances. CONCLUSION: The LDSQ may offer one way of helping address the health inequalities that people with an intellectual disability face.
Subject(s)
Intellectual Disability/diagnosis , Learning Disabilities/diagnosis , Psychometrics/instrumentation , Adult , Delphi Technique , Health Personnel , Humans , Persons with Mental Disabilities , Psychometrics/methods , Psychometrics/standards , Surveys and QuestionnairesABSTRACT
BACKGROUND: Positive behavioural support (PBS) has been identified as a means of improving the quality of life and support of people with an intellectual disability. This qualitative study explored the views of service providers about a regional PBS programme, that was underpinned by a workforce development approach. METHOD: Semi-structured interviews were conducted with senior staff (n = 42), from organizations which provided services to people with an intellectual disability, about their views about, and perceived impact of, the PBS programme, Data were analysed using thematic analysis. RESULTS: Two themes were identified: "It's what PBS is about, isn't it?" emphasized the importance of the programme being systemic- and evidence-based; "Macro to micro" highlighted the different points in the systems of care at which the programme was seen to impact. CONCLUSIONS: We discuss the results in the context of the study limitations.
Subject(s)
Intellectual Disability , Quality of Life , Humans , Qualitative Research , Staff Development , WorkforceABSTRACT
Previous studies have hinted at sex differences in developmental trajectories in ADHD symptoms; however, little is known about the nature or cause of these differences and their implications for clinical practice. We used growth mixture modelling in a community-ascertained cohort of n = 1,571 participants to study sex differences in ADHD symptom developmental trajectories across the elementary and secondary school years. Participants were measured at ages 7, 8, 9, 10, 11, 12, 13, and 15. We found that females were more likely to show large symptom increases in early adolescence while males were more likely to show elevated symptoms from childhood. For both males and females, early adolescence represented a period of vulnerability characterized by relatively sudden symptom increases. Females affected by hyperactivity/impulsivity may be more likely to be excluded from diagnosis due to current age of onset criteria. More attention should be paid to early adolescence as a period of risk for hyperactivity/impulsivity symptom onset or worsening.
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Adolescent , Age Factors , Attention Deficit Disorder with Hyperactivity/etiology , Child , Cohort Studies , Female , Humans , Impulsive Behavior , Male , Sex FactorsABSTRACT
AIM: To evaluate the psychometric properties of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) in paediatric neurodevelopment clinics. METHOD: Participants were 181 children (aged 6-18y) attending paediatric services in Scotland, divided into three age groups according to previous CAIDS-Q standardization cut-off scores. Fifty-four children (37 males, 17 females; mean age 117mo [SD 29.9mo]) met the criteria for intellectual disability and 127 did not (88 males, 39 females; mean age 120.1mo [SD 32.7mo]). A number of psychometric properties of the CAIDS-Q were evaluated, including test-retest and interrater reliability, convergent validity, sensitivity, specificity, and positive and negative predictive values based on existing cut-off scores. RESULTS: Significant positive relationships were found for all three age groups between CAIDS-Q scores and measures of intellectual and adaptive functioning. Test-retest reliability ranged from 'moderate' to 'almost perfect', whereas interrater reliability ranged from 'fair' to 'almost perfect'. Sensitivity and positive predictive value were 100% for all groups and specificity was between 83% and 94%, depending on age. Negative predictive values ranged from 75% to 91%. INTERPRETATION: The CAIDS-Q appears to show psychometric properties that support its use as a screen for intellectual disability in paediatric neurodevelopmental settings. WHAT THIS PAPER ADDS: The Child and Adolescent Intellectual Disability Screening Questionnaire showed good psychometric properties. It identified all participating children who met the criteria for intellectual disability. Between 83% and 94% of children without intellectual disability were also correctly identified.
CUESTIONARIO DE PESQUISA DE DISCAPACIDAD INTELECTUAL EN NIÑOS Y ADOLESCENTES PARA IDENTIFICAR DISCAPACIDAD INTELECTUAL: OBJETIVO: Evaluar las propiedades psicométricas del Cuestionario de Detección de Discapacidad Intelectual en Niños y Adolescentes (CAIDS-Q, siglas en inglés) en clínicas pediátricas de neurodesarrollo. MÉTODO: Participaron 181 niños (de 6 a 18 años) que asistían a servicios pediátricos en escocia, divididos en tres grupos de edad de acuerdo con los puntajes de corte de estandarización para la CAIDS-Q. Cincuenta y cuatro niños (37 varones, 17 mujeres, edad media 117 meses (DS 29.9 meses) cumplían con los criterios de discapacidad intelectual y 127 no cumplían con los criterios estipulados (88 varones, 39 mujeres, con una edad media de 120,1 meses (DS 32,7 meses). Se evaluaron varias propiedades psicométricas del CAIDS-Q, incluidas la repetibilidad y la confiabilidad entre evaluadores, la validez convergente, la sensibilidad, la especificidad y los valores predictivos positivos y negativos basados en los puntajes de corte preexistentes. RESULTADOS: Se encontraron correlaciones positivas significativas para los tres grupos de edad entre los puntajes CAIDS-Q y las mediciones de funcionamiento intelectual y adaptativo. La confiabilidad test-retest (repetibilidad) fue de 'moderada' a 'casi perfecta', mientras que la confiabilidad entre evaluadores fue de 'buena' a 'casi perfecta'. La sensibilidad y el valor predictivo positivo fueron del 100% para todos los grupos y la especificidad fue del 83% al 94%, según la edad. Los valores predictivos negativos fueron del 75% al ââ91%. INTERPRETACIÓN: El CAIDS-Q parece mostrar propiedades psicométricas que respaldan su uso como instrumento de pesquisa para la discapacidad intelectual en contextos de neurodesarrollo pediátrico.
QUESTIONÁRIO DE RASTREIO DE DEFICIÊNCIA INTELECTUAL DA CRIANÇA E DO ADOLESCENTE PARA IDENTIFICAR CRIANÇAS COM DEFICIÊNCIA INTELECTUAL: OBJETIVO: Avaliar as propriedades psicométricas do Questionário de Rastreio da Deficiência Intelectual da Criança e do Adolescente (CAIDS-Q) em clínicas de neurodesenvolvimento pediátrico. MÉTODO: Os participantes foram 181 crianças (idades 6-18 anos) que frequentam serviços pediátricos na Escócia, divididos em três grupos etários de acordo com pontos de corte da padronização do CAIDS-Q. Cinquenta e quatro crianças (37 do sexo masculino, 17 do sexo feminino; média de idade 117m [DP 29,9m]) atenderam aos critérios para deficiência intelectual e 127 não atenderam (88 do sexo masculino, 39 do sexo feminino; média de idade 120,1m [DP 32,7m]). Um número de propriedades psicométricas do CAIDS-Q foram avaliadas, incluindo confiabilidade teste-reteste e entre examinadores, validade convergente, sensibilidade, especificidade, e valores preditivos positivos e negativos, com base em pontos de corte existentes. RESULTADOS: Relações positivas significativas foram encontradas para todos os três grupos etários entre os escores CAIDS-Q e medidas de funcionamento intelectual e adaptativo. A confiabilidade teste-reteste variou de "moderada" a "quase-perfeita", enquanto a confiabilidade entre examinadores variou de "leve" a "quase perfeita". Os valores de sensibilidade e valores preditivo positivos foram 100% para todos os grupos, e a especificidade variou de 83% a 94%, dependendo da idade. Valores preditivos negativos variaram de 75% a 91%. INTERPRETAÇÃO: O CAIDS-Q parece mostrar propriedades psicométricas que sustentam seu uso para rastrear deficiência intelectual em ambientes de neurodesenvolvimento pediátrico.
Subject(s)
Intellectual Disability/diagnosis , Adolescent , Age Factors , Child , Female , Humans , Male , Mass Screening , Predictive Value of Tests , Psychometrics , Reproducibility of Results , Surveys and QuestionnairesABSTRACT
AIM: To develop a consensus framework to evaluate the impact of screening for intellectual disability, using the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) in paediatric neurodevelopment clinics. METHOD: A modified Delphi survey with four phases (literature review; initial development of framework [participants=11 parents, 8 professionals]; qualitative interviews [participants=4 parents, 15 professionals]; questionnaire development [participants=31 parents, 14 professionals] was used to develop the consensus framework. The framework was used to evaluate the impact of screening on six paediatricians and 31 parents of children who had participated in a previous paediatric screening project. RESULTS: Twelve of the original 20 items were retained based on levels of endorsement of 60 per cent or above. Direct benefits of using the CAIDS-Q were: indicating the child's level of functioning, increasing awareness of intellectual disability, helping to identify children with intellectual disability, and identifying potentially vulnerable children. Benefits related to subsequent diagnostic assessment were: promoting greater understanding of the child, identification of support needs, and receipt of support, particularly for the child at school. INTERPRETATION: The use of the CAIDS-Q had a number of direct and indirect benefits for children, families, and services as reported by parents and paediatricians. WHAT THIS PAPER ADDS: A 12-item framework was developed to evaluate the impact of screening for intellectual disability. Direct benefits of the Child and Adolescent Intellectual Disability Screening Questionnaire include increasing awareness and identification of intellectual disability. Indirect benefits included increased identification of support needs and receipt of support.
Subject(s)
Intellectual Disability/diagnosis , Adolescent , Child , Child Development , Female , Humans , Male , Mass Screening , Parents , Schools , Surveys and QuestionnairesABSTRACT
School-based psychosocial interventions are a widely used approach to prevent or reduce externalising behaviour. However, evaluating the effects of such interventions is complicated by the fact that the interventions may not only change the target behaviour, but also the way that informants report on that behaviour. For example, teachers may become more aware of bullying behaviour after delivering lessons on the topic, resulting in increased teacher reports of the behaviour. In this study, we used multi-group confirmatory factor analysis to evaluate whether teachers exposed to the Promoting Alternative Thinking Strategies (PATHS) intervention changed the way they reported on child externalising behaviour. Using data from the z-proso study (802 participants; 51% male; 69 teachers), teacher reports of aggressive behaviour, attention deficit hyperactivity disorder and non-aggressive conduct disorder symptoms were compared pre- and post- intervention and across the intervention and control conditions. There was no evidence that teacher reporting was affected by exposure to the intervention. This helps bolster the interpretation of intervention effects as reflecting changes in child behaviour, rather than in the manner of informant reporting.
Subject(s)
Attention Deficit Disorder with Hyperactivity/prevention & control , Child Behavior Disorders/prevention & control , Conduct Disorder/prevention & control , School Health Services/organization & administration , School Teachers/psychology , Aggression , Child , Child Behavior/psychology , Curriculum , Female , Humans , MaleABSTRACT
ADHD symptoms show considerable individual variation in the contexts in which they are expressed. It has previously been proposed that subtyping individuals according to the contexts in which symptoms are expressed may be clinically useful. We examined context-based patterns of ADHD symptoms in a longitudinal cohort study of n = 1388 children, as well as context-specific and context-general predictors of symptoms. Participants were community-ascertained and provided ADHD symptom data at ages 7, 9, and 11. Using growth mixture modelling we identified five inattention and five hyperactivity/impulsivity categories that differed in the developmental patterns of symptoms reported by parent and teacher informants. We found some evidence that context-specific predictors were related to context-specific expressions. Specifically, after controlling for other risk factors for ADHD symptoms, relationships with teachers predicted school-specific (teacher-reported) but not home-specific (parent-reported) symptom levels. However, no subtypes defined by exclusively home-based symptoms emerged, suggesting that while symptoms may sometimes be specific to the school context, they are only rarely confined to the home context. Subtyping by context could be informative; however, further work will required to uncover the nature of any etiological, functional, or outcome differences between those who show symptom expression in different contexts.
Subject(s)
Attention Deficit Disorder with Hyperactivity , Attention , Impulsive Behavior , Interpersonal Relations , Adolescent , Attention Deficit Disorder with Hyperactivity/classification , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/psychology , Behavioral Symptoms/diagnosis , Behavioral Symptoms/psychology , Child , Expressed Emotion , Female , Humans , Longitudinal Studies , Male , Parents/psychology , Psychomotor Agitation/psychology , School Teachers/psychology , Symptom Assessment/methodsABSTRACT
BACKGROUND: Research suggests that having relevant contextual information can help increase the accuracy of emotion recognition in typically developing (TD) individuals and adults with an intellectual disability. The impact of context on the emotion recognition of children with intellectual disability is unknown. METHOD: Emotion recognition tasks, which varied in terms of contextual information, were completed by 102 children (45 with and 57 without intellectual disability). RESULTS: There was a significant effect of age and group, with older and TD children performing better on average. There were significant group by condition interactions, whereby children with intellectual disability were more accurate at identifying emotions depicted by line drawings compared with photos with contextual information that was not directly related to the emotion being depicted. The opposite was found for TD children. CONCLUSIONS: These results have implications for socio-emotional interventions, such as universal school programmes.
Subject(s)
Emotions/physiology , Intellectual Disability/physiopathology , Pattern Recognition, Visual/physiology , Recognition, Psychology/physiology , Social Perception , Adolescent , Child , Child, Preschool , Female , Humans , MaleABSTRACT
BACKGROUND: The increasing number of individuals with an intellectual disability who are at risk of developing dementia highlights the need to use measures with strong psychometric properties as part of the screening, assessment and diagnostic process. METHOD: Searches were made of clinical and good practice guidelines and English language journal articles sourced from Proquest, Web of Science and Scopus databases (up to July 2017) for tools which were designed or adapted for the purpose of helping to diagnose dementia in people with intellectual disability. RESULTS: Based on a detailed review of 81 articles and guidelines, the present authors identified 22 relevant tools (12 cognitive, 10 behaviour). These were reviewed in terms of their psychometric properties. CONCLUSIONS: A number of tools were found to be available for use with people with intellectual disability; however, few were specifically standardized for this purpose which also had comprehensive information about reliability and validity.
Subject(s)
Dementia/diagnosis , Intellectual Disability , Neuropsychological Tests , HumansABSTRACT
Charcot-Marie-Tooth disease type 1A (CMT1A) is a demyelinating peripheral neuropathy caused by the duplication of peripheral myelin protein 22 (PMP22), leading to muscle weakness and loss of sensation in the hands and feet. A recent case-only genome-wide association study of CMT1A patients conducted by the Inherited Neuropathy Consortium identified a strong association between strength of foot dorsiflexion and variants in signal induced proliferation associated 1 like 2 (SIPA1L2), indicating that it may be a genetic modifier of disease. To validate SIPA1L2 as a candidate modifier and to assess its potential as a therapeutic target, we engineered mice with deletion of exon 1 (including the start codon) of the Sipa1l2 gene and crossed them to the C3-PMP22 mouse model of CMT1A. Neuromuscular phenotyping showed that Sipa1l2 deletion in C3-PMP22 mice preserved muscular endurance assayed by inverted wire hang duration and changed femoral nerve axon morphometrics such as myelin thickness. Gene expression changes suggest involvement of Sipa1l2 in cholesterol biosynthesis, a pathway that is also implicated in C3-PMP22 mice. Although Sipa1l2 deletion did impact CMT1A-associated phenotypes, thereby validating a genetic interaction, the overall effect on neuropathy was mild.