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In pediatric health care there is increasing attention for a child-centered approach, also referred to as personalized care (Coyne, Hallstrom, & Soderback, 2016). In this care it is essential to assess personal relevant functioning, hence, to explore which activities are important for a child and to assess the quality of performance of these meaningful activities (Coster & Khetani, 2008; Rodger & Kennedy-Behr, 2017). Therefore, health care providers need to ask children what they do or want to do and then assess the performance in their own context. However, how can providers ask children with multiple disabilities how they feel on the meaningfulness of activities? To provide personalized care and plan interventions that focus on meaningful activities insight is needed into the performance of meaningful activities in the daily living environment. Therefore, this case report describes whether the combined use of Talking Mats® and the Perceive, Recall, Plan and Perform-Assessment of home videos in a child with limited communication and cognitive abilities is feasible.

CHEK2 is considered to be involved in homologous recombination repair (HRR). Individuals who have germline pathogenic variants (gPVs) in CHEK2 are at increased risk to develop breast cancer and likely other primary cancers. PARP inhibitors (PARPi) have been shown to be effective in the treatment of cancers that present with HRR deficiency—for example, caused by inactivation of BRCA1/2. However, clinical trials have shown little to no efficacy of PARPi in patients with CHEK2 gPVs. Here, we show that both breast and non-breast cancers from individuals who have biallelic gPVs in CHEK2 (germline CHEK2 deficiency) do not present with molecular profiles that fit with HRR deficiency. This finding provides a likely explanation why PARPi therapy is not successful in the treatment of CHEK2 -deficient cancers. [ABSTRACT FROM AUTHOR]

Background The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications. Methods Patients with FOXP1 syndrome were included, mostly diagnosed via whole-exome sequencing for neurodevelopmental delay. A parent-report questionnaire was used to assess medical signs and symptoms, including questions about features rated as most burdensome by patients and their family. Results Forty individuals were included, 20 females and 20 males. The mean age at assessment was 13.2 years (median 8.5 years; range 2-54 years; =18 years n = 7). Seven adults were included. All patients had developmental problems, including cognitive, communication, social-emotional and motor delays. The most prevalent medical signs and symptoms include delayed bladder control, sleeping problems, hypermetropia, strabismus, sacral dimple, undescended testes, abnormal muscle tone and airway infections. The most burdensome complaints for patients with FOXP1 syndrome, as perceived by parents, include intellectual disability, impaired communication, behaviour problems, lack of age-appropriate self-reliance, attention problems and anxiety. According to parents, patients have quite similar reported symptoms, although incontinence, obsessions and a complex sensory profile have a higher ranking. Conclusion The results of this study may be used to further guide medical management and identify patient priorities for future research targeted on those features of FOXP1 syndrome that most impair quality of life of patients and their families. [ABSTRACT FROM AUTHOR]

To investigate the reliability and validity of the Perceive, Recall, Plan and Perform System of Task Analysis (PRPP-Assessment) by parent-provided videos of children with mitochondrial disorders. Videos of 13 children performing 3–7 activities each were the subject of study, resulting in 65 activities. These were scored using the PRPP-Assessment by 11 raters. Internal consistency was calculated with Cronbach's alpha. Intra-rater reliability was evaluated by Bland-Altman Plots on 44 PRPP-Assessment scores. Inter-rater reliability was calculated with ICCAgreement on 128 PRPP-Assessment scores. Construct validity was assessed by comparing the PRPP-Assessment scores to the Canadian Occupational Performance Measure using Cohen's Kappa. PRPP-Assessments scores were evaluated with a multi-faceted Rasch Analysis. Internal consistency was high (0.92). Intra-rater reliability was sufficient to be good (92–96% within the 95%-Limits of the Agreement). The ICCAgreement for stage 1 Mastery Score showed acceptable inter-rater reliability (0.646). Stage 2 of the PRPP-Assessment showed low ICCs due to a lack of variability within the sample. Four out of six hypotheses on validity were accepted. Rasch's analysis demonstrated sound goodness-of-fit, and supported the validity of the PRPP-Assessment. The PRPP-Assessment by parent-provided videos in this heterogenic group showed sufficient to good psychometric properties. In practice, careful task selection and formulating criterion is recommended. PRPP-Assessment by parent-provided videos is reliable and valid in the complex, heterogenous group of children with mitochondrial disorders The PRPP-Assessment is suitable for children with mitochondrial disorders as it showed to contain familiar, functional and meaningful tasks and activities that fit with their level of functioning Professionals should be aware that parents might not be used to the criterium-based frame of reference of the PRPP-Assessment When applying the PRPP-Assessment, it is recommended to be careful in task selection and formulating the criterion. [ABSTRACT FROM AUTHOR]

Introduction: Uncovering the perspective of children with multiple disabilities is important in health care to enable person‐centred health care. For occupational therapists, uncovering the child perspective on meaningful activities is necessary to set appropriate goals for treatment. It is not always evident that children with multiple disabilities can express themselves in an interview. The interviewer should adapt his communication to the child. In literature, alternative communication is widely studied, but a clear algorithm for deciding what to use to successfully gain insight into the child perspective is missing. This study aims to identify helpful interview techniques and interviewer skills and how they can be used to effectively uncover the perspective of children. Methods: Videos of nine interviews with children with a mitochondrial disorder, conducted by an occupational therapist, were analysed by five researchers. The interviews were analysed to see how well the interviewee had obtained the child's perspectives followed by observation of communicative abilities of the child and the types of questions the interviewer asked. A qualitative directed content analysis of the semi‐structured interviews followed. Findings: An interview pattern was observed in the children's communication leading to six successful interviews. Children communicated verbally on four different levels and also used non‐verbal communication. The interviewer used five types of questions, which varied between and within the children. The content analysis resulted in two themes: parental influences and interviewer skills. Conclusion: Results show the importance of matching the type of questions to the verbal communication level of the child and revealed several interviewer skills and techniques. An overview to guide tailor‐made interviewing is presented. The interviewer has a major role in successful interviewing and thus in enabling the inclusion of the child perspective in research and care. [ABSTRACT FROM AUTHOR]

Performing the Perceive, Recall, Plan and Perform (PRPP)-Assessment, using video material of everyday life, seems sensible to lower the patient burden, enhance ecological validity, and provide care at a distance. However, receipt of adequate video material is not self-evident and assessing videos can be challenging. Therefore, this study aims to optimize the process of gaining video material and to optimize the PRPP-Assessment based on parent-provided videos. An action design research method was used, focusing on implementation of the PRPP-Assessment based on parent-provided videos within the care of children with a mitochondrial disorder or similar symptoms. Five cycles were conducted. To receive input, the cycles used videos of nine children performing activities, written feedback, and semi-structured interviews and focus groups comprising parents (n = 13), a teacher (n = 1), occupational therapists (n = 16), and other professionals (n = 2). This led to successful implementation of the PRPP-Assessment. General lessons were learned on (1) instructing parents; (2) handling video material; (3) PRPP-Assessment based on parent-provided videos; and (4) PRPP-Assessment of children (with limited functional abilities). Lessons learned should be implemented in practice and are incorporated into a manual to guide the implementation of video-based observations with PRPP-Assessment in practice. [ABSTRACT FROM AUTHOR]