Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers

Bolbocean, Corneliu; Andújar, Fabiola N.; McCormack, Maria; Suter, Bernhard; Holder, J. Lloyd

doi:10.1007/s10803-021-05030-8

Cited by 12 publications

(15 citation statements)

References 38 publications

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“…However, possible mediating effects of socio-economic factors should be explored in future research. Furthermore, the evidence led us to conclude that the distribution of PedsQL scores is different across PMD, SYNGAP1 -ID and RTT during the pandemic which is consistent with a previously reported finding Bolbocean et al ( 2021 ). At the same time, HRQoL scores among PMD are higher compared to the other two genetic conditions which has also been previously observed.…”

Section: Discussionsupporting

confidence: 92%

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders

Bolbocean

Rhidenour

McCormack

et al. 2022

J Autism Dev Disord

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Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver’s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions.

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Section: Discussionsupporting

confidence: 92%

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders

Bolbocean

Rhidenour

McCormack

et al. 2022

J Autism Dev Disord

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“…Motor deficits, especially gait abnormalities, are understudied, but common, phenotypes associated with neurodevelopmental disorders ( Shetreat-Klein et al, 2014 ; Colizzi et al, 2020 ). Functional physical deficits result in impaired quality of life for children with neurodevelopmental disorders including those due to monogenic lesions ( Bolbocean et al, 2022 ). Despite this, quantitative evaluations of gait are rarely performed for neurodevelopmental disorders especially as compared to frequent evaluations through neuroimaging, electroencephalography, and neurocognitive testing.…”

Section: Introductionmentioning

confidence: 99%

Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin

Layne

Malaya

Young

et al. 2022

Front. Hum. Neurosci.

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SYNGAP1-related Intellectual Disability (SYNGAP1-ID) is a rare neurodevelopmental condition characterized by profound intellectual disability, gross motor delays, and behavioral issues. Ataxia and gait difficulties are often observed but have not yet been characterized by laboratory-based kinematic analyses. This investigation identified gait characteristics of an individual with SYNGAP1-ID and compared these with a neurotypical fraternal twin. Lower limb kinematics were collected with a 12-camera motion capture system while both participants walked on a motorized treadmill. Kinematic data were separated into strides, and stride times calculated. Sagittal plane hip, knee, and ankle joints were filtered and temporally normalized to 100 samples. Minimum and maximum joint angles, range of motion (ROM) and angular velocities were obtained for each joint by stride and averaged for each participant. ROM symmetry between left and right joints was also calculated. Discrete relative phase (DRP) was used to assess coordination and variability between joints within a single limb and compared across limbs. Phase portraits were calculated by joint, and their areas were computed with a MATLAB script. Statistical parametric mapping (SPM) was used to assess differences in joint angle waveforms between participants. P1, the individual with SYNGAP1-ID, displayed significantly reduced stride times relative to the fraternal twin, i.e., P2. A majority of minimum, maximum angles, ROMs, and angular velocities were significantly different between P1 and P2. Phase portrait areas were consistently less in P1 relative to P2 and there were differences in knee and ankle symmetries. DRP showed no differences between individuals, suggesting that P1’s coordinative events remained similar to those observed during neurotypical gait (P2). SPM revealed significant differences between the left and right legs at the knee and ankle joints of P1 while P2 joint left and right waveforms were nearly identical for all joints. Additionally, SPM revealed there were significant differences between P1 and P2 for all joints. This investigation identified several major gait features of an individual with SYNGAP1-ID and provided a comprehensive characterization of these features by utilizing both linear and non-linear analyses. While limited in generalizability, this report provides a strong quantitative appraisal of gait in an individual with SYNGAP1-ID as well as an analysis pathway for future investigations.

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“…Nevertheless, few studies have specifically focused on the impact of caring for a child with a rare genetic disease on FQoL (Bolbocean et al, 2022; Mori et al, 2017). Mori et al (2017) investigated the FQoL among families with a child with the CDKL5 disorder and showed that the FQoL was generally lower in those using social supports such as respite care services, suggesting that these families could be more burdened by daily caregiving (Mori et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

“…Mori et al (2017) investigated the FQoL among families with a child with the CDKL5 disorder and showed that the FQoL was generally lower in those using social supports such as respite care services, suggesting that these families could be more burdened by daily caregiving (Mori et al, 2017). Bolbocean et al (2022) evaluated FQoL among families who had children with three genetic disorders that predispose to syndromic autism: Phelan–McDermid syndrome, Rett syndrome, and SYNGAP1‐related intellectual disability. In these three conditions, emotional well‐being determined the greatest damage on FQoL; besides that, there were significant differences among the genetic disorders for parenting and family interaction, which had lower scores in the SYNGAP1‐related intellectual disability families.…”

Section: Introductionmentioning

confidence: 99%

“…In these three conditions, emotional well-being determined the greatest damage on FQoL; besides that, there were significant differences among the genetic disorders for parenting and family interaction, which had lower scores in the SYNGAP1-related intellectual disability families. Thus, this study demonstrated the need to consider the contribution of syndrome-specific phenotypes in order to better support family adjustment in these conditions (Bolbocean et al, 2022). We could not find any study that assessed the quality of life among families who have children with Rubinstein-Taybi syndrome (RTS).…”

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confidence: 96%

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Quality of life of Brazilian families who have children with Rubinstein–Taybi syndrome: An exploratory cross‐sectional study

Vale

Avó

Pilotto

et al. 2022

American J of Med Genetics Pt A

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This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.93 ± 0.64. Families' scores were higher for family interaction (4.17 ± 0.76), parenting (4.13 ± 0.61), and disability-related support (4.08 ± 0.76) domains, and lower for the family's emotional well-being (3.31 ± 0.96) and physical/material well-being (3.76 ± 0.82) domains. Family income, attendance at religious services, presence of ocular abnormalities, and aggressive behavior explained 46.2% of the variance in the overall FQoL. In summary, FQoL seems to be anchored in aspects such as family interaction and the care of parents, and be negatively affected by emotional issues, physical, and material limitations. In this context, psychological assistance should be provided to both parents and siblings whenever indicated, for improving emotional well-being and increasing family resilience. Additionally, investments in social policies, services, and human and material resources are needed to improve the physical and material conditions of families, promote better health care, and therefore reduce the family burden.

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Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers

Cited by 12 publications

References 38 publications

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders

COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders

Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin

Quality of life of Brazilian families who have children with Rubinstein–Taybi syndrome: An exploratory cross‐sectional study

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