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Parenting Girls with Rett Syndrome: An Investigation on Self-Perceived Levels of Stress

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Title: Parenting Girls with Rett Syndrome: An Investigation on Self-Perceived Levels of Stress
Language: English
Authors: Pari, Elisa, Cozzi, Francesca, Rodocanachi Roidi, Marina Luisa, Grange, Francesca, Toshimori, Kumiko, Ripamonti, Enrico (ORCID 0000-0002-0584-8401)
Source: Journal of Applied Research in Intellectual Disabilities. Nov 2020 33(6):1348-1356.
Availability: Wiley. Available from: John Wiley & Sons, Inc. 111 River Street, Hoboken, NJ 07030. Tel: 800-835-6770; e-mail: cs-journals@wiley.com; Web site: https://www.wiley.com/en-us
Peer Reviewed: Y
Page Count: 9
Publication Date: 2020
Document Type: Journal Articles
Reports - Research
Descriptors: Child Rearing, Caregiver Role, Parent Caregiver Relationship, Females, Mothers, Fathers, Self Concept, Stress Variables, Genetic Disorders, Neurological Impairments, Severity (of Disability)
Assessment and Survey Identifiers: Parenting Stress Index
DOI: 10.1111/jar.12755
ISSN: 1360-2322
Abstract: Background: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. Methods: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress Index (PSI) questionnaire. Results: We found clinical levels of stress in about 39% of fathers, as compared with 44% of the mothers. Severity of RTT, but not other factors such as the genetic domain, presence of epilepsy or scoliosis, predicted Total Stress scores in both fathers' subsample and mothers' subsample. A cumulative effect of caring, that is association of higher levels of stress with longer process of care, did also emerge from estimation of smoothing splines. Conclusions: Fathers' resources should be taken more into account, especially in the rehabilitation and socialization process of adults with RTT.
Abstractor: As Provided
Entry Date: 2020
Accession Number: EJ1273012
Database: ERIC
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  Value: <anid>AN0146677755;e0301nov.20;2020Oct30.03:33;v2.2.500</anid> <title id="AN0146677755-1">Parenting girls with Rett syndrome: An investigation on self‐perceived levels of stress </title> <p>Background: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. Methods: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress Index (PSI) questionnaire. Results: We found clinical levels of stress in about 39% of fathers, as compared with 44% of the mothers. Severity of RTT, but not other factors such as the genetic domain, presence of epilepsy or scoliosis, predicted Total Stress scores in both fathers' subsample and mothers' subsample. A cumulative effect of caring, that is association of higher levels of stress with longer process of care, did also emerge from estimation of smoothing splines. Conclusions: Fathers' resources should be taken more into account, especially in the rehabilitation and socialization process of adults with RTT.</p> <p>Keywords: caring; defense levels; difficult child; epilepsy; parenting; Rett syndrome; stress levels</p> <p></p> <ulist> <item> Abbreviations</item> <p></p> <item> ANOVA analysis of variance</item> <p></p> <item> DC difficult child</item> <p></p> <item> DL defense levels</item> <p></p> <item> P‐CDI parent‐child dysfunctional interaction</item> <p></p> <item> PD parental distress</item> <p></p> <item> PSI parental stress index</item> <p></p> <item> RARS Rett assessment rating scale</item> <p></p> <item> RTT Rett syndrome</item> <p></p> <item> Tot total stress</item> </ulist> <hd id="AN0146677755-2">INTRODUCTION</hd> <p>Rett syndrome (RTT) is a neurodevelopmental disorder associated with severe intellectual disability, functional and relational limitations (Hunter, 1999). RTT is predominantly linked to MECP2 gene mutations and affects one female birth in 10,000/15,000 (Chahrour & Zoghbi, 2007). Although some signs of the condition could be potentially detected even in the first months of life (e.g. hypotonia, along with some peculiarities in the gross hand movements), girls with RTT may have a development within the normal range even up to 18 months. The diagnosis becomes evident around 6–18 months, when development stops and regression of previously acquired skills can be observed (Neul et al., 2010). Motor and language functions are progressively lost, and hand stereotypes (washing, clapping, wringing) represent one of the distinctive signs of the syndrome. There are also frequent organic comorbidities, including seizures (affecting 60%–80% of girls with RTT (Krajnc, 2015)), scoliosis (affecting more than 85% of girls with RTT aged >16 years (Percy et al., 2010; Riise, Brox, Sorensen, & Skjeldal, 2011)), respiratory disorders (apnoeas and hyperventilation), cardiac and gastrointestinal disorders, sleep and metabolic disorders, and psychological symptoms, such as problematic management of emotions and mood disorders (Hagberg, 2002). It is also worth mentioning that a high proportion of girls with RTT are wheelchair‐bound, which may imply higher levels of dependence.</p> <p>This clinical picture has relevant consequences especially for caregivers, generally parents, who, after a regular pregnancy, birth and first months of development, are unexpectedly challenged by the effects of a very severe neurodevelopmental disorder (Rolland, 1994). In the very short term, parents have to cope with emotional distress and they have to reorganize their life and style of care (McCubbin et al., 1980). They live in a state of uncertainty and constant psychological tension due to the high level of dependency and care implied by RTT. Their quality of life unavoidably changes and progressively declines, as documented by previous research on severe disability (Dabrowska & Pisula, 2010; Farrace, Tommasi, Casadio, & Verrotti, 2013; Huang, Chang, Chi, & Lai, 2014; McStay, Dissanayake, Scheeren, Koot, & Begeer, 2014), and, more specifically, on RTT (Cianfaglione, Clarke, et al., 2015; Parisi, Di Filippo, & Roccella, 2016; Perry, Sarlo‐McGarvey, & Factor, 1992). Typical emotional symptoms such as anxiety, depression and increased stress burden have been described (Miodrag, Burke, Tanner‐Smith, & Hodapp, 2015; Sarajlija, Djuric, & Tepavcevic, 2013). High levels of anxiety and stress are also predicted by the severity of the behavioural phenotype of girls with RTT (Cianfaglione, Hastings, Felce, Clarke, & Kerr, 2015). At the same time, many families deal very well with the challenges of complex disability, activating unexpected resources and resilience processes (Müller, Hornig, & Retzlaff, 2005; Retzlaff, 2007; Retzlaff, Hornig, Müller, Reuner, & Pietz, 2006). Bevers et al. provided a useful description on the impact of a child with complex neurodevelopmental disability on his/her family (Beavers, Hampson, Hulgus, & Beavers, 1986).</p> <p>The psychological literature has highlighted that pre‐disposition to a very demanding style of care and/or the possibility of experiencing an effective and satisfying relationship, together with reciprocity between partners, are protecting variables when parenting children with severe disability (Perry et al., 1992). Previous studies on neurodevelopmental disorders have mainly focused on mothers, who generally have a predominant role in caring. However, fathers may also offer useful information, both in terms of providing their perspective on the family climate or organization, and in terms of the rehabilitative intervention, expressing their point of view on practical and psychological resources available in the couple (Gallagher, Cross, & Scharfman, 1981; Lavee, Sharlin, & Katz, 1996; Perry et al., 1992; Wade et al., 2010). Following a developmental system theory (Ford & Lerner, 1992), it is worth investigating on parents' level of stress in neurodevelopmental disorders. Indeed, fathers and mothers are a fundamental component of the <emph>microsystem</emph> where children grow up. In case their stress levels are not too high (or clinical), parents may represent a valuable resource also for the rehabilitative process.</p> <p>This paper aims to study how parents cope with a daughter with RTT. In addition, we investigate possible differences in the coping strategies used by mothers and fathers. We hypothesize that, especially in the Italian context, both fathers and mothers are deeply involved in the process of caring for children with severe disability and could show similar levels of stress. In fact, children with severe disability generally continue to live in the family context throughout the life cycle (Censis, 2014). We also aim to identify the role of other variables on perceived levels of stress, such as the age of patients, and clinical factors such as disease severity, presence of progressive scoliosis or epilepsy (Byiers, Tervo, Feyma, & Symons, 2012). We assume that all these factors could contribute to determine high‐perceived levels of stress in fathers and mothers of girls with RTT.</p> <hd id="AN0146677755-3">MATERIALS AND METHODS</hd> <p></p> <hd id="AN0146677755-4">Participants</hd> <p>Levels of stress were investigated in 79 couples of parents of girls diagnosed with RTT. Parents were contacted by the research team of the Developmental Neurology and Psychiatry Unit of the Don Carlo Gnocchi Foundation (Milan) for one day of evaluation and parental supervision. During this day, the clinical team (paediatric neurologist, psychologist, neurodevelopmental therapist, music therapist) met the girls and the parents in order to assess the rehabilitative needs. Contacts were provided by the "Associazione Italiana Rett" (AIRETT), and all contacted couples were consented to participate in the study. All parents were themselves members of AIRETT. The inclusion criteria for parents to participate in this study were as follows: (a) being Italian mother tongue or having acquired a high level of proficiency with the Italian written language; and (b) a minimum of 8 years of education.</p> <p>As to the patients, in the present analysis we only included girls with (a) diagnosis of typical RTT according to the most recent international guidelines (Neul et al., 2010), that is regression from the standard acquisition of psycho‐motor functions, partial or total loss of language, and partial or total loss of manual abilities; (b) age greater than 2 years; and (c) positive genetic test (molecular analysis of the MECP2 gene by sequencing the coding exons or through multiplex ligation‐dependent probe amplification; in case of negative genetic test, participation in the study was potentially allowed only after clinical re‐evaluation for the verification of the diagnostic criteria). Since we aimed to investigate the specific mechanism of stress in parents of girls with RTT, we excluded girls with a clinical/genetic picture compatible with a diagnosis of a variant of RTT. In sum, seven patients were excluded from the present study.</p> <p>All parents were able to provide informed consent to participate in this cross‐sectional investigation and to understand task instructions. The study was conducted in accordance with the ethical standards laid down in the Declaration of Helsinki and was approved by the local Ethical Committee of the Don Carlo Gnocchi Foundation (approval number: 4_18062014).</p> <hd id="AN0146677755-5">Parental stress evaluation</hd> <p>Parents had to fill in the Italian version of the Parenting Stress Index (PSI, Short Form) (Abidin, 1990). This questionnaire consists of 36 items that have to be assessed on a 5‐category Likert scale. PSI is composed of four subscales: (a) Parental Distress (PD) scale; (b) Parent‐Child Dysfunctional Interaction (P‐CDI) scale; (c) Difficult Child (DC) scale; and (d) Defense Levels (DL) scale. A Total Stress (Tot) score, which is the sum of the scores obtained in the three scales, can be subsequently calculated. In the PSI manual, there are four different tables to assess scores, depending on the age of the patient (0–2; 3–6; 6–9; >9). A level of stress is considered clinical when it is above the cut‐off, that is the 85th percentile. The paediatric neurologist and the psychologist provided the PSI questionnaire to both parents (if both present) or to one of them, explaining them the main aims of the questionnaire. Parents could complete the PSI questionnaire during the evaluation day, or it could be subsequently sent to the hospital (within two weeks from assessment) by regular mail.</p> <hd id="AN0146677755-6">Clinical evaluation of girls</hd> <p>Girls underwent a neurological examination and a clinical evaluation of the musculoskeletal components of the limbs (reduction in the range of motion in the main articulations, presence of heterometry of the lower limbs) and of the rachis.</p> <hd id="AN0146677755-7">The Rett Assessment Rating Scale</hd> <p>This is a general scale used to assess disease severity that evaluates all aspects of the syndrome and is completed by parents (Fabio et al., 2014). The Rett Assessment Rating Scale (RARS) provides a composite score, calculated from 31 items, each assessed on 1–4 ordinal scale; RARS evaluates six domains, namely (a) cognition; (b) sensory system; (c) motor system; (d) emotions and affects; (e) daily life autonomy; and (f) typical RTT features. Scores from 0 to 55 indicate mild impairment, from 56 to 81 moderate impairment and from 82 to 124 severe impairment.</p> <hd id="AN0146677755-8">Evaluation of scoliosis</hd> <p>Since X‐ray images were not standardized (patients could be supine, seated or standing, depending on disease severity and on compliance during the examination), to codify the presence of scoliosis we adopted the scale of scoliosis standardized in the RARS. These scores are as follows: 1 (no scoliosis); 2 (mild scoliosis); 3 (moderate scoliosis); and 4 (severe scoliosis).</p> <hd id="AN0146677755-9">Evaluation of walking</hd> <p>As to the evaluation of walking, we used the sub‐score provided by RARS: (a) the girl is able to keep herself upright and to walk independently. She can look where she is going, go up and downstairs; (b) the girl is able to keep herself upright, but sometimes she needs support to walk; (c) the girl is able to keep herself upright, but she constantly needs support to walk; and (d) the girl is unable to keep herself upright and to walk independently. She always requires a wheelchair or stroller to move.</p> <hd id="AN0146677755-10">Evaluation of epilepsy</hd> <p>The presence of epilepsy was evaluated with a 0–2 clinical scale, (a) no epilepsy; (b) epilepsy controlled with drugs; and (c) pharmacoresistant epilepsy (Eom & Lee, 2017; Kwan et al., 2010; Vignoli et al., 2017).</p> <hd id="AN0146677755-11">Statistical analyses</hd> <p>Data were analysed using descriptive statistics, such as mean and standard deviation. We preliminary checked the distribution of Total PSI scores; the Kolmogorov–Smirnov test did not reject the normality assumption for either mothers' (D = 0.07, <emph>p</emph> = .88) or fathers' (D = 0.06, <emph>p</emph> = .93) scores. Similar results were obtained for all subscale scores; hence, we used a parametric approach for data analysis. We compared means (of mothers' and fathers' scores) using <emph>t</emph> tests for independent samples (without assuming equal variances, i.e. adopting Welch formula). We used Pearson's coefficients to evaluate the correlations among subscales. Subsequently, multiple regression models were estimated in the fathers' subsample, inserting each partial score of the PSI questionnaire (i.e. DC; DL; P‐CDI; PD; PSI score) as dependent variable, and age of the child, Total RARS score, Scoliosis RARS score, Walking RARS score, epilepsy score, age of the father, years of education of the father and current marital status (married or separated/divorced) as regressors. Note that, to avoid the possible issue of multicollinearity, before running the multivariable models we a priori checked the correlations within and across partial and Total RARS scores; in case some correlations were above the threshold of 0.80, only a reasonable subset of these variables was included in the model. An ANOVA model inserting Total Stress scores as dependent variable and domain of genetic mutation as factor was also run. The same analyses were repeated in the mothers' subsample. Finally, smoothing spline regression models (Harrell, 2015) were estimated to assess the association between patients' age and levels of stress as perceived by fathers or mothers. Analyses were conducted setting a nominal value of 0.05 to evaluate the significance of each p‐value.</p> <hd id="AN0146677755-12">RESULTS</hd> <p></p> <hd id="AN0146677755-13">Description of the sample</hd> <p>Fathers had a mean age of 46.43 years (<emph>SD</emph>: 9.19) and mean educational level of 12.20 years (<emph>SD</emph>: 3.82). Mothers had mean age of 43.73 years (<emph>SD</emph>: 9.57) and mean educational level of 13.03 years (<emph>SD</emph>: 3.56). As to the girls, their mean age was 12 (8.4) years. All girls included in this sample lived with their families, and until the age of 18, they regularly attended school, as required by the Italian law.</p> <hd id="AN0146677755-14">Clinical evaluation of girls</hd> <p>Twenty‐two girls (28%) had no scoliosis, 30 (38%) had mild scoliosis, 17 (21%) had moderate scoliosis, and 10 (13%) were diagnosed with severe scoliosis. Sixty‐six out of 79 girls (83.5%) needed at least some help to walk and were formally prescribed with a wheelchair by the physician. Of these, 18 always required a wheelchair or a stroller to move; the others could walk with some help. Using the clinical scale adopted by Vignoli et al. (2017), 27 girls (34%) were classified as not having epilepsy, 28 girls (35%) were diagnosed with epilepsy controlled by drugs, and 24 girls (30%) had pharmacoresistant epilepsy.</p> <hd id="AN0146677755-15">Overview of the PSI questionnaire results</hd> <p>Seventy out of 79 (88.6%) of the PSI questionnaires were completed by the fathers and 71 out of 79 (89.9%) by the mothers. For each child, at least one parent completed the questionnaire. In five cases in which one of the parents did not send his/her evaluation, parents were divorced. Average scores by patients' age range are reported in Table 1.</p> <p>1 TableAverage PSI scores by patients' age range</p> <p> <ephtml> <table><thead valign="bottom"><tr><th align="left">Age range</th><th align="left">Mothers</th><th align="left">Fathers</th></tr><tr><th align="left">Tot</th><th align="left">PD</th><th align="left">P‐CDI</th><th align="left">DC</th><th align="left">DL</th><th align="left">Tot</th><th align="left">PD</th><th align="left">P‐CDI</th><th align="left">DC</th></tr></thead><tbody><tr><td align="left">2</td></tr><tr><td align="left">Mean</td><td align="char" char=".">95.0</td><td align="char" char=".">32.0</td><td align="char" char=".">29.3</td><td align="char" char=".">33.0</td><td align="char" char=".">18.8</td><td align="char" char=".">71.2</td><td align="char" char=".">21.3</td><td align="char" char=".">25.3</td><td align="char" char=".">24.5</td></tr><tr><td align="left">SD</td><td align="char" char=".">33.2</td><td align="char" char=".">10.0</td><td align="char" char=".">11.3</td><td align="char" char=".">10.8</td><td align="char" char=".">6.4</td><td align="char" char=".">16.1</td><td align="char" char=".">5.4</td><td align="char" char=".">8.2</td><td align="char" char=".">4.9</td></tr><tr><td align="left">3–5</td></tr><tr><td align="left">Mean</td><td align="char" char=".">79.3</td><td align="char" char=".">27.5</td><td align="char" char=".">23.4</td><td align="char" char=".">28.3</td><td align="char" char=".">16.8</td><td align="char" char=".">81.7</td><td align="char" char=".">26.2</td><td align="char" char=".">27.0</td><td align="char" char=".">28.7</td></tr><tr><td align="left">SD</td><td align="char" char=".">26.3</td><td align="char" char=".">9.5</td><td align="char" char=".">7.8</td><td align="char" char=".">10.2</td><td align="char" char=".">5.8</td><td align="char" char=".">30.4</td><td align="char" char=".">10.6</td><td align="char" char=".">9.9</td><td align="char" char=".">11.0</td></tr><tr><td align="left">6–8</td></tr><tr><td align="left">Mean</td><td align="char" char=".">76.6</td><td align="char" char=".">25.8</td><td align="char" char=".">24.4</td><td align="char" char=".">26.4</td><td align="char" char=".">15.6</td><td align="char" char=".">79.4</td><td align="char" char=".">28.5</td><td align="char" char=".">22.9</td><td align="char" char=".">28.0</td></tr><tr><td align="left">SD</td><td align="char" char=".">18.4</td><td align="char" char=".">5.9</td><td align="char" char=".">6.0</td><td align="char" char=".">8.5</td><td align="char" char=".">3.2</td><td align="char" char=".">15.8</td><td align="char" char=".">6.7</td><td align="char" char=".">4.6</td><td align="char" char=".">8.0</td></tr><tr><td align="left">>9</td></tr><tr><td align="left">Mean</td><td align="char" char=".">86.7</td><td align="char" char=".">31.3</td><td align="char" char=".">26.2</td><td align="char" char=".">30.4</td><td align="char" char=".">19.9</td><td align="char" char=".">80.9</td><td align="char" char=".">26.6</td><td align="char" char=".">26.4</td><td align="char" char=".">27.7</td></tr><tr><td align="left">SD</td><td align="char" char=".">23.4</td><td align="char" char=".">9.2</td><td align="char" char=".">7.8</td><td align="char" char=".">9.5</td><td align="char" char=".">6.1</td><td align="char" char=".">19.7</td><td align="char" char=".">7.3</td><td align="char" char=".">6.5</td><td align="char" char=".">7.8</td></tr></tbody></table> </ephtml> </p> <p>1 Abbreviations: DC: Difficult Child scale; DL: Defense Levels scale; P‐CDI: Parent‐Child Dysfunctional Interaction scale; PD: Parental Distress scale.</p> <p>Detailed results for each patient are reported in the Supplementary information. A cursory glance at Table S1 could immediately indicate how a substantial proportion of fathers and mothers perceived high levels of stress.</p> <hd id="AN0146677755-16">Fathers' responses</hd> <p>More than one third of the fathers reported clinical levels of stress, as indicated by the Total Stress score, which was above the cut‐off for 27 out of 70 participants (38.6%). Parental Distress (PD), indication of a Difficult Child (DC) and Defense Levels (DL) were clinical in 17/70, 23/70 and 15/70, that is 24.3%, 32.8% and 21.4% of the sample, respectively. The Parent‐Child Dysfunctional Interaction (P‐CDI) score was higher than other scores and was above the cut‐off for 31/70, that is 44.3% of the fathers.</p> <hd id="AN0146677755-17">Mothers' responses</hd> <p>Considering the Total Stress index, a clinical score was found for 31 out of 71 (43.6%) of the mothers, and a similar picture did emerge with respect to the four subscales. As to the Parental Distress levels (PD scale), the score was above the cut‐off for 27/71 (38.0%) of the mothers. With regard to the Interaction between Parent and Child (P‐CDI) scale, a clinical score was reported for 33/71 (46.5%) of the mothers and a similar situation emerged as to the Difficult Child (DC) score (clinical for 26/71, i.e. 36.6% participants) and for the Defense Levels (DL) score (above the cut‐off for 28/71, i.e. 39.4% of the mothers).</p> <hd id="AN0146677755-18">Comparison of fathers' and mothers' scores</hd> <p>To assess the hypothesis that fathers' and mothers' levels of stress would be similar (at least in the Italian context), we compared the average scores obtained in the two subsamples (of fathers and mothers). No comparison proved significant, with the exception of the Parental Distress (PD) scale, which was lower for fathers (mean = 26.71, <emph>SD</emph> = 7.61) than for mothers (mean = 29.88, <emph>SD</emph> = 8.78) (<emph>t</emph>(<reflink idref="bib144" id="ref1">144</reflink>) = 2.33, <emph>p</emph> = .02). Also, the Defense Levels (DL) score was lower in the fathers' subsample (mean = 15.88, <emph>SD</emph> = 4.75) than in the mothers' subsample (mean = 18.59, <emph>SD</emph> = 5.76), (<emph>t</emph>(<reflink idref="bib143" id="ref2">143</reflink>) = 3.11, <emph>p</emph> = .002).</p> <hd id="AN0146677755-19">Cumulative effect of caring</hd> <p>A rapid inspection of Table 1 might suggest the presence of a trend between age of the child and parents' perceived levels of stress. We explored this issue by estimating smoothing spline models (with 4 degrees of freedom) showing the relation between age and Total Stress (Tot) score, Parental Distress (PD) score, Parent‐Children Dysfunctional Interaction (P‐CDI) score and Difficult Child (DC) score, respectively (see Figure 1).</p> <p> <img src="https://imageserver.ebscohost.com/img/embimages/rdk/E03/01nov20/jar12755-fig-0001.jpg?ephost1=dGJyMNXb4kSepq84yOvqOLCmsE6epq5Srqa4SK6WxWXS" alt="jar12755-fig-0001.jpg" title="1 Total Stress score, Parental Distress, Parent‐Child Interaction and Difficult Child score as a function of age in mothers (solid red line) and in fathers (dashed blue line)" /> </p> <p></p> <p>Results suggest the presence of a cumulative effect of caring, that is stress levels are high when parents have spent more years taking care of a child with RTT. This effect is stronger in mothers than in fathers. In addition, mothers showed high levels of stress when taking care of a teenager aged 15 or more. Similar but more modest effects have been observed also for fathers. It is also worth remarking that, when the patient has become a young adult (i.e. about 25 years old), fathers' (but not mothers') perceived levels of stress, will apparently not be higher. This might indicate, in such a phase, a partial disengagement of fathers from the process of caring. Note also that, in this phase, both mothers and fathers are much older themselves, and this might (at least partially) explain the higher level of stress.</p> <hd id="AN0146677755-21">Analysis of correlations</hd> <p>We analysed the correlations (Pearson's coefficient) between subscale scores, separately for mothers and fathers (see Table 2). As to the subsample of fathers, the Parental Distress (PD) score was highly correlated with the Defense Levels (DL) score (<emph>ρ</emph> = 0.95) but also to the Difficult Child (DC) score (<emph>ρ</emph> = 0.69) The Parent‐Child Dysfunctional Interaction (P‐CDI) score was correlated with the Difficult Child (DC) score (<emph>ρ</emph> = 0.66) and with the Defense Levels (DL) score (<emph>ρ</emph> = 0.62). A slightly different scenario did emerge in the subsample of mothers. In fact, the Parental Distress (PD) score was highly correlated with the Defense Levels (DL) score (<emph>ρ</emph> = 0.82) and the Difficult Child (DC) score was highly correlated with the Parent‐Child Dysfunctional Interaction (P‐CDI) score (<emph>ρ</emph> = 0.65).</p> <p>2 Table(a) Correlation (Pearson's coefficient) of scores at the PSI subscales for mothers and fathers, separately. (b) Correlation of mothers' and fathers' (intra‐familiar correlations) scores on the PSI subscales</p> <p> <ephtml> <table><thead valign="top"><tr><th align="left">(a)</th></tr><tr><th align="left" /><th align="left">Tot</th><th align="left">PD</th><th align="left">P‐CDI</th><th align="left">DC</th><th align="left">DL</th></tr></thead><tbody><tr><td align="left">Mothers</td></tr><tr><td align="left">Tot</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">PD</td><td align="char" char=".">0.81</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">P‐CDI</td><td align="char" char=".">0.82</td><td align="char" char=".">0.63</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">DC</td><td align="char" char=".">0.84</td><td align="char" char=".">0.50</td><td align="char" char=".">0.65</td><td align="char" char=".">1</td><td align="char" char="." /></tr><tr><td align="left">DL</td><td align="char" char=".">0.63</td><td align="char" char=".">0.82</td><td align="char" char=".">0.53</td><td align="char" char=".">0.35</td><td align="char" char=".">1</td></tr><tr><td align="left">RARS</td><td align="char" char=".">0.32</td><td align="char" char=".">0.46</td><td align="char" char=".">0.44</td><td align="char" char=".">0.21</td><td align="char" char=".">0.07</td></tr><tr><td align="left">Fathers</td></tr><tr><td align="left">Tot</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">PD</td><td align="char" char=".">0.87</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">P‐CDI</td><td align="char" char=".">0.85</td><td align="char" char=".">0.60</td><td align="char" char=".">1</td><td align="char" char="." /><td align="char" char="." /></tr><tr><td align="left">DC</td><td align="char" char=".">0.88</td><td align="char" char=".">0.69</td><td align="char" char=".">0.66</td><td align="char" char=".">1</td><td align="char" char="." /></tr><tr><td align="left">DL</td><td align="char" char=".">0.86</td><td align="char" char=".">0.95</td><td align="char" char=".">0.62</td><td align="char" char=".">0.69</td><td align="char" char=".">1</td></tr><tr><td align="left">RARS</td><td align="char" char=".">0.34</td><td align="char" char=".">0.25</td><td align="char" char=".">0.34</td><td align="char" char=".">0.27</td><td align="char" char=".">0.15</td></tr></tbody></table> </ephtml> </p> <p>2 Table(a) Correlation (Pearson's coefficient) of scores at the PSI subscales for mothers and fathers, separately. (b) Correlation of mothers' and fathers' (intra‐familiar correlations) scores on the PSI subscales</p> <p> <ephtml> <table><thead valign="top"><tr><th align="left">(b)</th></tr><tr><th align="left">Score</th><th align="left">Corr.</th></tr></thead><tbody><tr><td align="left">Tot</td><td align="char" char=".">0.47</td></tr><tr><td align="left">PD</td><td align="char" char=".">0.50</td></tr><tr><td align="left">P‐CDI</td><td align="char" char=".">0.36</td></tr><tr><td align="left">DC</td><td align="char" char=".">0.36</td></tr><tr><td align="left">DL</td><td align="char" char=".">0.51</td></tr></tbody></table> </ephtml> </p> <p>2 Abbreviations: DC: Difficult Child scale; DL: Defense Levels scale; P‐CDI: Parent‐Child Dysfunctional Interaction scale; PD: Parental Distress scale.</p> <p>As to the association of RARS scores with those obtained in the PSI subscales, correlations were moderate for mothers, ranging from that with the Defense Levels (DL) score (<emph>ρ</emph> = 0.07) to that with Parental Distress (PD) score (<emph>ρ</emph> = 0.46). Similar results were obtained in the fathers' sample, with correlations varying from <emph>ρ</emph> = 0.15 (Defense Levels, DL) to <emph>ρ</emph> = 0.34 (Total Stress, Tot). Finally, in Table 2 we reported correlations between fathers' and mothers' PSI scores for each subscale (intra‐familiar correlations). Correlations were, in general, mild, ranging from <emph>ρ</emph> = 0.36 (Parent‐Child Dysfunctional Interaction, P‐CDI; Difficult Child index, DC) to <emph>ρ</emph> = 0.51 (Defense Levels, DL). This indicates that, even though there exists a common ground in the evaluations, fathers' and mothers' levels of stress would be determined, at least partially, by different components.</p> <hd id="AN0146677755-22">Multivariable analyses</hd> <p>To test the role of putative intervening variables in determining stress levels (considering different dimensions of stress, as postulated by the PSI theoretical background), we conducted multiple regression analyses as described in the Methods section. In the fathers' subsample, Total RARS scores were associated with Total Stress scores (<emph>β</emph> = 0.93(0.31), <emph>t</emph> = 3.05, <emph>p</emph> = .003), with Parent‐Child Dysfunctional Interaction (P‐CDI) scores (<emph>β</emph> = 0.33(0.10), <emph>t</emph> = 3.30, <emph>p</emph> = .01) and with the Difficult Child (DC) scores (<emph>β</emph> = 0.32(0.13), <emph>t</emph> = 2.65, <emph>p</emph> = .01). In the mothers' subsample, Total RARS scores (i.e. a proxy of the severity of RTT) emerged as a significant predictor of the Parent‐Child Dysfunctional Interaction, P‐CDI (<emph>β</emph> = 0.27(0.12), <emph>t</emph> = 2.26, <emph>p</emph> = .03). No other variables proved significant in any statistical model. Finally, we ran an ANOVA model inserting Total Stress scores as dependent variable and domain of genetic mutation as factor, but the latter did not prove significant in either fathers' or mothers' subsample.</p> <hd id="AN0146677755-23">DISCUSSION</hd> <p>The process of caring for a child with RTT is a difficult task for the family, requiring to activate psychological, social and economic resources, and it may represent a source of stress for family members (Downs & Leonard, 2016; McCubbin & Patterson, 1983). The objective of this investigation was not only to analyse perceived levels of stress, but also to assess how parents dealt with complex neurodevelopmental disability, activating resilience processes. In this study, we analysed the responses to a questionnaire on parental stress (PSI—Short Form) in a sample of fathers parenting girls with RTT; results were compared with those obtained by mothers. About 39% of fathers and 44% of mothers reported clinical levels of stress, as indicated by the Total Stress score. Parental Distress scores were lower for fathers than for mothers, as well as scores obtained on the Defense Levels scale. Disease severity, but not other factors, predicted both fathers' and mothers' stress levels. An interesting effect of cumulative caring emerged as associated with parental stress. In other words, stress levels were high for parents who had taken care of a girl with RTT for many years (and were, as noted earlier, older on average). It is also worth remarking that such cumulative effect was stronger for mothers than for fathers. In addition, fathers' (but not mothers') levels of stress were not high when taking care of a young adult (aged more than 25 years) with RTT.</p> <p>We found that a substantial proportion of fathers of girls with RTT reported clinical levels of stress, as measured by PSI—Short Form, namely a questionnaire with strong psychometric properties and with a long story of application in developmental disorders. Even though parental stress levels of fathers have been studied little in RTT, our results are in agreement with a large strand of empirical literature demonstrating the association of high levels of stress with parenting children with a severe neurodevelopmental disorder (Adams et al., 2018). However, contemporary research has been more focused on mothers' levels of stress than fathers' levels of stress, as in a recent study on paediatric mitochondrial disease, which reported higher than average levels of stress and depression in the mothers of these children (Eom & Lee, 2017).</p> <p>The levels of stress of both fathers and mothers had been studied in a previous investigation using PSI (Perry et al., 1992) in a sample of 29 girls with RTT. In general, these parents reported more stress as compared to norms, but their scores were in the normal range on most measures. Similar results, namely fairly normal stress levels, with little differences between mothers and fathers, have been obtained in German couples (Müller et al., 2005; Retzlaff, 2007; Retzlaff et al., 2006). Data reported herein are in partial contrast with the results of these previous investigations. Indeed, our findings indicate that parental stress levels should be carefully monitored along the life span of girls with RTT. Differently from previous research, our data also indicate a correlation between level of impairment and perceived stress. It should be remarked that our results are not directly comparable to those reported by Perry et al. in terms of subscales and partial scores, since we adopted the short version of the PSI questionnaire. It is also worth considering that, differently from the study by Adams et al., where a certain proportion of patients with neurodevelopmental disorders lived in nursing homes or other residential institutions, all girls with RTT of the present investigation lived with the family (which is typical of the Italian context).</p> <p>An important result emerging from the present study is that higher levels of stress would be associated with a longer process of care, but such an effect is less severe for fathers than for mothers. This result can be interpreted in the light of previous findings reported by Perry et al., who described greater family or relationship problems in parents of older girls with RTT. Thus, we suggest to specifically plan psychological interventions focused on the parental couples of adults with RTT and to foster participation of fathers as a valuable resource for the family. It is also worth observing that a 10‐year longitudinal study monitoring parents of children with disability (Hauser‐Cram, Warfield, Shonkoff, & Krauss, 2001) indicated that mothers' parenting stress would not increase if they can experience effective social support. An alternative explanation could be that, more than a cumulative process, this finding could indicate a qualitatively different effect. With puberty and with the onset of adolescence, the body undergoes physiological and behavioural changes that put individuals in close contact with their own sensations and feelings. In RTT, this developmental stage may be particularly challenging and can lead to further behavioural problems and symptoms (Sansom, Krishnan, Corbett, & Kerr, 1993). During puberty and teenage, girls with RTT are emotionally instable and present with mood swings and sleep disorders, which could explain why we found a cumulative effect of stress for girls over 15 years.</p> <p>Qualitative differences between fathers' and mothers' reaction to RTT did also emerge from the analysis of PSI subscales. Fathers attained lower Parental Distress (PD) scores than mothers, and their reaction to RTT seems to be more influenced by disease severity than by other factors, which could indicate that their involvement in the process of care (Shapiro, Diamond, & Greenberg, 1995) may be fundamental in case of severe or very severe RTT. This can be particularly important in the Italian context, where previous research (Scabini, Lanz, & Marta, 1999) has shown that mothers may be too involved in the relationship with children, and might not grasp the problematic aspects of the relationship, especially with a difficult child. In addition, mothers could not feel free to express themselves and to communicate their difficulties, and could be invested with stressful expectations (Milgrom & Beatrice, 2003; Raphael‐Leff, 2001). Fathers can play a fundamental role in identifying these issues and to cope with distress (Bodenmann, 1995). It is also worth observing that both fathers' and mothers' Parental Distress scores were correlated with the Difficult Child (DC) score, which was also found to be associated with high Parent‐Child Dysfunctional Interaction score.</p> <p>We remark that in the multivariable models stress scores were significantly predicted by RARS scores (i.e. a proxy of disease severity), but not by other concomitant variables such as the educational level (also a proxy of accumulated human capital) or current marital status (married or separated/divorced). This may imply that clinicians should be particularly careful in monitoring stress symptoms for all parents of girls with moderate or severe RTT, since apparently there are no other intrinsic or extrinsic protective factors. Further investigations should be conducted also considering direct proxies of socioeconomic status or occupation.</p> <p>An important observation is also that, while a not negligible proportion of parents reported clinical levels of stress (and may require psychological support), a substantial proportion of the sample (about 61% of the fathers and 56% of the mothers) succeeded to cope with RTT without attaining clinical stress levels. This could be explained by the activation of resilience mechanisms, as suggested by the previous literature (Retzlaff, 2007). It is also worth mentioning that this positive result may be explained by the processes of reward and emotional enrichment that follow from taking care of a child/young adult with severe disability.</p> <p>We did not find any association between the presence of seizures and parental stress levels, neither for fathers nor for mothers. This result would not confirm the picture emerging from a previous investigation involving 35 women with RTT (mean age = 20.3 years), where the presence of seizures was found to be associated with higher levels of stress (Byiers et al., 2012). This discrepancy may be attributed to the fact that the authors measured the presence of epilepsy without using an ordinal scale (but simply using a self‐reported measure) and without distinguishing between epilepsy controlled with drugs and pharmacoresistant epilepsy. By contrast, we investigated on this research question using a fine‐grained clinical scale, and we found that the presence of epilepsy would not be a crucial factor to predict parental stress levels.</p> <p>We had good sample coverage in this study, in terms of both fathers' (88.6%) and mothers' (89.9%) responses. We did not conduct a detailed analysis (e.g. using telephone interviews or psychological counselling) on the possible motivations of missing responses or missing questionnaires, but this would be worth considering for future qualitative and quantitative research, in the light of the important differences emerged in the parental stress of fathers vs. mothers of girls with RTT. We also observe that we assessed stress levels only through the use of PSI. While this is a weakness of our approach, this instrument presents with some strengths, namely its excellent psychometric properties, and the fact that it is a short and easy to administer questionnaire. The PSI is routinely used with children with complex needs, in terms of multidimensional evaluation and also to assess the need of psychological counselling.</p> <p>A limitation of this study is that we did not have a measure of marital satisfaction available, which may represent a mediating variable of parental stress (Friedrich, Wilturner, & Cohen, 1988; Gurman & Knisker, 1981) and might provide important information to plan psychological counselling, enrichment or parent training. This is also an open issue for future research. Another limitation of the present study is that we restricted our investigation to a rather static definition of "fathers" and "mothers," only driven by assuming a biological role, without exploring the psychological dimension of gender, which may explain part of the variance in reactions to stress (Dimitrovsky, Levy‐Shiff, & Perl, 2000). Adding an evaluation of parents' personality as well as an assessment of the environmental context and of the support network would be useful. It has been recently shown (Downs & Leonard, 2016; Lamb et al., 2016) how stress perception in families with a daughter with RTT depends on perception of self‐efficacy, coping style and family adaptation to the social context. Also, the social network is often a significant predictor of stress levels in parents of children with severe disabilities (Andrews et al., 2014). Finally, it should be worth considering the behavioural profile of children with RTT, as associated with parental stress levels (Eom & Lee, 2017).</p> <p>In conclusion, this study demonstrated that, while in general fathers and mothers can deal with the stress of caring for a girl with RTT, a certain proportion of them show high (and clinical) levels of stress. Moreover, disease severity is a crucial predictor of this outcome. Qualitative differences between fathers' and mothers' scores did emerge, as well as an interesting effect of cumulative care, which, especially in mothers, would be associated with higher levels of stress. Thus, we would recommend clinicians caring for adults with RTT, to take into particular account fathers' resources in this phase of the life cycle.</p> <hd id="AN0146677755-24">ACKNOWLEDGEMENTS</hd> <p>We are grateful to Mrs. Nagley Bertoldi Losa for her careful review of the manuscript.</p> <hd id="AN0146677755-25">CONFLICT OF INTEREST</hd> <p>All authors contributed equally to the manuscript. There is no conflict of interest associated with the present manuscript.</p> <hd id="AN0146677755-26">DATA AVAILABILITY STATEMENT</hd> <p>There is no public data set associated with this manuscript.</p> <p>GRAPH: Table S1</p> <ref id="AN0146677755-27"> <title> REFERENCES </title> <blist> <bibl id="bib1" type="bt">1</bibl> <bibtext> Abidin, R. (1990). Parenting stress index ‐ short form. 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Caregiver functioning following early childhood TBI: Do moms and dads respond differently? NeuroRehabilitation, 27, 63 – 72. https://doi.org/10.3233/NRE‐2010‐0581</bibtext> </blist> </ref> <aug> <p>By Elisa Pari; Francesca Cozzi; Marina Luisa Rodocanachi Roidi; Francesca Grange; Kumiko Toshimori and Enrico Ripamonti</p> <p>Reported by Author; Author; Author; Author; Author; Author</p> </aug> <nolink nlid="nl1" bibid="bib144" firstref="ref1"></nolink> <nolink nlid="nl2" bibid="bib143" firstref="ref2"></nolink>
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  Label: Title
  Group: Ti
  Data: Parenting Girls with Rett Syndrome: An Investigation on Self-Perceived Levels of Stress
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  Label: Language
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  Data: English
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Pari%2C+Elisa%22">Pari, Elisa</searchLink><br /><searchLink fieldCode="AR" term="%22Cozzi%2C+Francesca%22">Cozzi, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Rodocanachi+Roidi%2C+Marina+Luisa%22">Rodocanachi Roidi, Marina Luisa</searchLink><br /><searchLink fieldCode="AR" term="%22Grange%2C+Francesca%22">Grange, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Toshimori%2C+Kumiko%22">Toshimori, Kumiko</searchLink><br /><searchLink fieldCode="AR" term="%22Ripamonti%2C+Enrico%22">Ripamonti, Enrico</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0002-0584-8401">0000-0002-0584-8401</externalLink>)
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  Group: Src
  Data: <searchLink fieldCode="SO" term="%22Journal+of+Applied+Research+in+Intellectual+Disabilities%22"><i>Journal of Applied Research in Intellectual Disabilities</i></searchLink>. Nov 2020 33(6):1348-1356.
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  Label: Availability
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  Data: Wiley. Available from: John Wiley & Sons, Inc. 111 River Street, Hoboken, NJ 07030. Tel: 800-835-6770; e-mail: cs-journals@wiley.com; Web site: https://www.wiley.com/en-us
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  Label: Peer Reviewed
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  Data: Y
– Name: Pages
  Label: Page Count
  Group: Src
  Data: 9
– Name: DatePubCY
  Label: Publication Date
  Group: Date
  Data: 2020
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: Journal Articles<br />Reports - Research
– Name: Subject
  Label: Descriptors
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Child+Rearing%22">Child Rearing</searchLink><br /><searchLink fieldCode="DE" term="%22Caregiver+Role%22">Caregiver Role</searchLink><br /><searchLink fieldCode="DE" term="%22Parent+Caregiver+Relationship%22">Parent Caregiver Relationship</searchLink><br /><searchLink fieldCode="DE" term="%22Females%22">Females</searchLink><br /><searchLink fieldCode="DE" term="%22Mothers%22">Mothers</searchLink><br /><searchLink fieldCode="DE" term="%22Fathers%22">Fathers</searchLink><br /><searchLink fieldCode="DE" term="%22Self+Concept%22">Self Concept</searchLink><br /><searchLink fieldCode="DE" term="%22Stress+Variables%22">Stress Variables</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+Disorders%22">Genetic Disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological+Impairments%22">Neurological Impairments</searchLink><br /><searchLink fieldCode="DE" term="%22Severity+%28of+Disability%29%22">Severity (of Disability)</searchLink>
– Name: SubjectThesaurus
  Label: Assessment and Survey Identifiers
  Group: Su
  Data: <searchLink fieldCode="SU" term="%22Parenting+Stress+Index%22">Parenting Stress Index</searchLink>
– Name: DOI
  Label: DOI
  Group: ID
  Data: 10.1111/jar.12755
– Name: ISSN
  Label: ISSN
  Group: ISSN
  Data: 1360-2322
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. Methods: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress Index (PSI) questionnaire. Results: We found clinical levels of stress in about 39% of fathers, as compared with 44% of the mothers. Severity of RTT, but not other factors such as the genetic domain, presence of epilepsy or scoliosis, predicted Total Stress scores in both fathers' subsample and mothers' subsample. A cumulative effect of caring, that is association of higher levels of stress with longer process of care, did also emerge from estimation of smoothing splines. Conclusions: Fathers' resources should be taken more into account, especially in the rehabilitation and socialization process of adults with RTT.
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  Label: Entry Date
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  Data: 2020
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  Label: Accession Number
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  Data: EJ1273012
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=eric&AN=EJ1273012
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      – Type: doi
        Value: 10.1111/jar.12755
    Languages:
      – Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 1348
    Subjects:
      – SubjectFull: Child Rearing
        Type: general
      – SubjectFull: Caregiver Role
        Type: general
      – SubjectFull: Parent Caregiver Relationship
        Type: general
      – SubjectFull: Females
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      – SubjectFull: Stress Variables
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      – SubjectFull: Genetic Disorders
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      – SubjectFull: Severity (of Disability)
        Type: general
      – SubjectFull: Parenting Stress Index
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    Titles:
      – TitleFull: Parenting Girls with Rett Syndrome: An Investigation on Self-Perceived Levels of Stress
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