Social‐emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour

Munde, Vera; Vlaskamp, Carla; Haar, A. ter

doi:10.1111/jir.12233

Cited by 8 publications

(7 citation statements)

References 49 publications

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“…Our findings highlight the difficulty encountered by many caregivers in terms of identifying symptoms of alarm in their children. This may be explained due to the fact that, during the first phase of RTT, from birth to 6 months, the child may not show any manifestation of the illness [1,30]. Subsequently, during the second stage (regression stage), between 6–18 months, different symptoms arise, affecting speech, walking ability, socially withdrawn behavior and stereotypical hand movement, as well as sleeping and eating, epilepsy and respiratory problems [1,30].…”

Section: Discussionmentioning

confidence: 99%

“…This may be explained due to the fact that, during the first phase of RTT, from birth to 6 months, the child may not show any manifestation of the illness [1,30]. Subsequently, during the second stage (regression stage), between 6–18 months, different symptoms arise, affecting speech, walking ability, socially withdrawn behavior and stereotypical hand movement, as well as sleeping and eating, epilepsy and respiratory problems [1,30]. For this reason, caregivers did not observe different behaviors in the various stages of RTT and possibly could not identify some early symptoms [30].…”

Section: Discussionmentioning

confidence: 99%

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“Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome

Palacios‐Ceña

Famoso-Pérez

Salom‐Moreno

et al. 2018

IJERPH

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Background: Rett syndrome has considerable effects on the quality of life of affected children, impairing everyday activities and potentially impacting the life of both the caregivers and the family. Our aim was to explore the experiences of a group of caregivers of children with Rett syndrome with regards to living and caring for their children. Methods: We conducted a qualitative case study to examine how 31 caregivers of children with Rett syndrome perceived living with their children. Data were collected through in-depth interviews, focus groups, researchers’ field notes and caregivers’ personal documents. A thematic analysis was performed following the Consolidated Criteria for Reporting Qualitative Research (COREQ) guideline. Results: The experience of being a caregiver of a child with Rett syndrome was expressed as being akin to an “obstacle course”, and was described via three main themes: (a) looking for answers, with two subthemes identified, namely ‘the first symptoms’, and ‘the need for a diagnosis’; (b) managing day to day life, with the subthemes ‘applying treatments’, and ‘learning to care’; and (c) money matters. Conclusions: Rett syndrome has a considerable impact on the lives of the caregivers involved. The health-care process and the management of economic resources are some of the aspects highlighted by caregivers. These findings have important implications for the planning of support services, health systems and health policies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome

Palacios‐Ceña

Famoso-Pérez

Salom‐Moreno

et al. 2018

IJERPH

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“…Having to feed her every piece of food that she needs to eat for nutritional purposes. (14) If a child had a greater capacity to stand or move independently, it would mean less risk of injury and less physical exhaustion for parents.…”

Section: Meaningful Improvements For Caregiversmentioning

confidence: 99%

“…1,8 Rett syndrome is a progressive disorder with symptoms emerging in the first year of life after a period of normal development. 13,14 The onset of most Rett syndrome characteristics typically follows regression in speech and motor skills. Changes in Rett syndrome generally stagnate during childhood and adolescence.…”

Section: Introductionmentioning

confidence: 99%

Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers

et al. 2023

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Background Rett syndrome is a rare neurodevelopmental disorder primarily affecting females. This syndrome is associated with many comorbidities and impairments related to motor function, breathing, sleep, expressive language, and repetitive hand movements. The Rett Syndrome Behaviour Questionnaire (RSBQ) is one measure used to assess changes in Rett syndrome–related manifestations or core symptoms. Little is known about how caregivers think about meaningful changes in the items that make up the RSBQ scale. Methods This qualitative study explored how caregivers of individuals with Rett syndrome viewed changes in the symptoms covered in the RSBQ. We conducted semistructured interviews with 40 caregivers and employed thematic analysis, identifying themes using an iterative process. Results Two factors characterized caregivers’ thoughts about meaningful changes in Rett syndrome manifestations. First, general features of these symptoms rendered them bothersome: the extent of bother compared to other symptoms, if or how they prevented desirable behaviors and their temporal qualities. Second, caregivers evaluated the meaning of improvements by considering the decrease in bother and the potential benefits of change. Improvements had social and psychological consequences for individuals with Rett syndrome and caregivers. In addition, implications for health, fine and gross motor skills, and communication were also substantial.

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“…RTT has an X-linked dominant pattern of inheritance and mainly affects females with an approximate 1:10,000 incidence featuring predominantly de novo mutations in the methyl-CpG-binding protein 2 (MECP2) gene (Carter et al, 2010;Corchón, Carrillo-López, & Cauli, 2018;Leonard et al, 2017). Phenotype evolution encompasses initial loss of speech and motor skill regression following apparent normal development, with decelerating head growth, hand stereotypies, gait anomalies (ataxia, apraxia), pulmonary dysfunction, mood fluctuation, and disruptive behavior (Munde, Vlaskamp, & Haar, 2016;Wong, Leonard, Jacoby, Ellaway, & Downs, 2015). We present a patient with SSADHD and RTT, disorders typically associated with autism spectrum disorder and epilepsy (Benke & Möhler, 2018;Frye et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

Brown

Ashcraft

Arning

et al. 2019

Molec Gen & Gen Med

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Background We present a patient with Rett syndrome (RTT; MECP2 ) and autosomal‐recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1 = SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (hand stereotypies, gait anomalies). Methods γ‐Hydroxybutyric acid (GHB) was quantified by UPLC‐tandem mass spectrometry, while mutation analysis followed standard methodology of whole‐exome sequencing. Results The biochemical hallmark of SSADHD, GHB was increased in the proband's dried bloodspot (DBS; 673 µM; previous SSADHD DBSs ( n = 7), range 124–4851 µM); control range ( n = 2,831), 0–78 µM. The proband was compound heterozygous for pathogenic ALDH5A1 mutations (p.(Asn418IlefsTer39); maternal; p.(Gly409Asp); paternal) and a de novo RTT nonsense mutation in MECP2 (p.Arg255*). Conclusion The major inhibitory neurotransmitter, γ‐aminobutyric acid (GABA), is increased in SSADHD but normal in RTT, although there are likely regional changes in GABA receptor distribution. GABAergic anomalies occur in both disorders, each featuring an autism spectrum phenotype. What effect the SSADHD biochemical anomalies (elevated GABA, GHB) might play in the neurodevelopmental/epileptic phenotype of our patient is currently unknown.

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Social‐emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour

Cited by 8 publications

References 49 publications

“Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome

“Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome

Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

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