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What Do Parents Expect from a Genetic Diagnosis of Their Child with Intellectual Disability?

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Title: What Do Parents Expect from a Genetic Diagnosis of Their Child with Intellectual Disability?
Language: English
Authors: Dikow, Nicola (ORCID 0000-0003-4631-9829), Moog, Ute, Karch, Stephanie, Sander, Anja, Kilian, Samuel, Blank, Rainer, Reuner, Gitta
Source: Journal of Applied Research in Intellectual Disabilities. Sep 2019 32(5):1129-1137.
Availability: Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA
Peer Reviewed: Y
Page Count: 9
Publication Date: 2019
Document Type: Journal Articles
Reports - Research
Descriptors: Parent Attitudes, Expectation, Clinical Diagnosis, Genetics, Children, Intellectual Disability, Quality of Life, Severity (of Disability)
DOI: 10.1111/jar.12602
ISSN: 1360-2322
Abstract: Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup. Results: Most parents considered a diagnosis highly relevant for their own emotional relief, their child's therapies and education, or family planning. Parental mental health was significantly lower compared with the normative sample, but physical health was not different. The severity of the child's intellectual disability correlated negatively with their parents' mental and physical health, quality of life, and positively with parental anxiety. Conclusion: Healthcare providers should be aware of the disadvantages facing families with intellectually disabled children. Receiving practical, social and psychological support as well as genetic testing might be particularly relevant for families with severely disabled children.
Abstractor: As Provided
Entry Date: 2019
Accession Number: EJ1223859
Database: ERIC
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  Value: <anid>AN0137846749;e0301sep.19;2019Aug03.05:50;v2.2.500</anid> <title id="AN0137846749-1">What do parents expect from a genetic diagnosis of their child with intellectual disability? </title> <p>Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup. Results: Most parents considered a diagnosis highly relevant for their own emotional relief, their child's therapies and education, or family planning. Parental mental health was significantly lower compared with the normative sample, but physical health was not different. The severity of the child's intellectual disability correlated negatively with their parents' mental and physical health, quality of life, and positively with parental anxiety. Conclusion: Healthcare providers should be aware of the disadvantages facing families with intellectually disabled children. Receiving practical, social and psychological support as well as genetic testing might be particularly relevant for families with severely disabled children.</p> <p>Keywords: genetic diagnosis; intellectual disability; parental expectations; quality of life</p> <hd id="AN0137846749-2">INTRODUCTION</hd> <p>Intellectual disability (ID) and developmental delay (DD) have a prevalence of 1% in western countries (Maulik, Mascarenhas, Mathers, Dua, & Saxena, [<reflink idref="bib21" id="ref1">21</reflink>]). Severe forms of intellectual disability (defined as an IQ <50) and moderate intellectual disability are assumed to often have genetic causes. Severe intellectual disability was recently reported to be caused by rare de novo mutations (that do not occur in either parent, for example in X‐linked Rett syndrome with underlying pathogenic <emph>MECP2</emph> variants or autosomal dominant Pitt–Hopkins syndrome caused by pathogenic variants in <emph>TCF4</emph>) in up to 60% of cases. In contrast, mild intellectual disability is probably mainly caused by a combination of (multiple) genetic alterations and/or non‐genetic factors, such as perinatal complications or maternal alcohol consumption during pregnancy (Deciphering Developmental Disorders Study, [<reflink idref="bib7" id="ref2">7</reflink>]; Michelson et al., [<reflink idref="bib23" id="ref3">23</reflink>]; Ropers, [<reflink idref="bib37" id="ref4">37</reflink>]; Vissers, Gilissen, & Veltman, [<reflink idref="bib47" id="ref5">47</reflink>]). Genetic causes of intellectual disability are heterogeneous and clinically indistinguishable in patients without associated characteristics, such as dysmorphic features. Array analysis (a microchip‐based technique for diagnosing submicroscopic copy number variations such as chromosomal deletions or duplications) and, in the last few years, next‐generation sequencing (NGS) technologies, including exome sequencing (techniques for sequencing a large number of genes or all protein‐coding regions of genes within a genome in parallel), have increased the diagnostic rate in children with ID/DD (de Ligt et al., [<reflink idref="bib6" id="ref6">6</reflink>]; Deciphering Developmental Disorders Study, [<reflink idref="bib7" id="ref7">7</reflink>]; Rauch et al., [<reflink idref="bib32" id="ref8">32</reflink>],[<reflink idref="bib33" id="ref9">33</reflink>]; Strande & Berg, [<reflink idref="bib41" id="ref10">41</reflink>]).</p> <p>At the Institute of Human Genetics, University Hospital of Heidelberg, children with ID/DD with or without congenital malformations, dysmorphic features and neurologic symptoms are assessed to find the cause of their medical condition in an interdisciplinary neuropaediatric‐genetic consultation. The clinical genetic diagnostic approach conforms to the published recommendations of the American Academy of Paediatrics (Moeschler, Shevell, & Committee on Genetics, [<reflink idref="bib25" id="ref11">25</reflink>]). It consists of a full assessment of the patient's medical and family history, together with physical, neurologic and dysmorphology examinations. Selected single‐gene tests or cytogenetic analyses are recommended if a specific diagnosis is strongly suspected based on clinical findings. One has to keep in mind that these clinical diagnoses may change after genetic diagnostic analyses. In the absence of a suspected aetiological diagnosis, a step‐by‐step diagnostic approach is performed based on cytogenetics (chromosome analysis), array analyses, Fragile X analysis (test for a frequent genetic cause of intellectual disability) and metabolic testing of disorders associated with intellectual disability. Depending on the history, additional non‐genetic tests, such as brain imaging, or more detailed metabolic tests can also be performed. If necessary, NGS techniques such as multigene panel analysis or exome sequencing will be considered. In these cases, the diagnostic workup may take up to 1 year and 2–3 additional consultations may be needed until parents receive the final results. However, cost recovery for these newer technologies is decided on an individual basis by the healthcare provider and is not yet available to every patient with ID/DD in Germany.</p> <p>While most published investigations focus on the child's well‐being and development, little is known about the mental health, physical health, quality of life (QoL), expectations and motivation of parents who endure the long procedures of this diagnostic workup. The existing literature points to several important aspects in this context. Firstly, caring for a child with ID/DD can increase social burdens, such as financial challenges and organizational problems (Parish & Cloud, [<reflink idref="bib27" id="ref12">27</reflink>]), and can also increase psychological stress (Dyson, [<reflink idref="bib9" id="ref13">9</reflink>]). Consequently, the QoL of the whole family can be significantly affected (Browne & Bramston, [<reflink idref="bib3" id="ref14">3</reflink>]).</p> <p>Secondly, parents of children with chronic illness or with undiagnosed medical conditions often experience emotional stress because of the uncertain aetiology and prognosis of their child's condition (Jessop & Stein, [<reflink idref="bib14" id="ref15">14</reflink>]; Lipinski, Lipinski, Biesecker, & Biesecker, [<reflink idref="bib18" id="ref16">18</reflink>]; Madeo, O'Brien, Bernhardt, & Biesecker, [<reflink idref="bib19" id="ref17">19</reflink>]). Caring for a child with ID/DD when the aetiology and diagnosis are uncertain puts considerable strain on the parents. Not knowing the reason for their child's developmental problems has been associated with more psycho‐emotional disadvantages in mothers compared with mothers of non‐disabled children or children whose condition (Down Syndrome) is diagnosed (Lenhard, Breitenbach, Ebert, Schindelhauer‐Deutscher, & Henn, [<reflink idref="bib16" id="ref18">16</reflink>]). In a qualitative descriptive study based on interviews with parents of 16 children born with unidentified multiple congenital anomaly syndromes, the motivation of parents seeking a diagnosis was explored. The authors identified six areas of interest in these parents: labels, causes, prognosis, treatment, acceptance and social support. Significant issues included obtaining special education services, anticipating the child's future, potential medical complications, life expectancy, recurrence risks, finding sources of social support and ensuring that the child receives appropriate treatment (Rosenthal, Biesecker, & Biesecker, [<reflink idref="bib38" id="ref19">38</reflink>]). Another qualitative study concluded that a diagnosis enabled parents to develop active coping strategies to reduce stress and regain life control (Graungaard & Skov, [<reflink idref="bib13" id="ref20">13</reflink>]). A retrospective questionnaire‐based study showed enhanced QoL in mothers of disabled children when array analysis had revealed an underlying diagnosis (Lingen et al., [<reflink idref="bib17" id="ref21">17</reflink>]). Taken together, these findings suggest that knowing the aetiology of the child's ID/DD might be highly relevant to family members.</p> <p>Here, the present authors present a prospective study on the motivations, expectations, mental health, physical health and QoL of parents who entered a comprehensive neuropaediatric‐genetic aetiological diagnostic workup to uncover the underlying cause of their child's ID/DD. Our study aimed to explore parental motivations for seeking a genetic diagnosis as well as their expectations. In addition, the present authors assessed their QoL and how QoL was affected by the severity of the child's ID/DD. The present authors expected that parents of children with more severe ID/DD would have more practical motivations for undergoing the diagnostic workup, report more mental and physical health‐related problems, and show higher anxiety compared with parents of mildly delayed children. In summary, our study was designed to broaden our current knowledge of the situation facing families of children with ID/DD.</p> <hd id="AN0137846749-3">PARTICIPANTS AND METHODS</hd> <p></p> <hd id="AN0137846749-4">Participants</hd> <p>Within the interdisciplinary neuropaediatric‐genetic consultation of Heidelberg University Hospital, children are examined to uncover the aetiology of their ID/DD. During our routine diagnostic procedure, children with ID/DD of unknown cause, with or without congenital malformations, dysmorphic features and neurologic symptoms, undergo a neuropaediatric assessment, physical examination with dysmorphology evaluation, and cytogenetic/molecular genetic testing. The consultation takes place at the university hospital and a cooperating neuropaediatric centre.</p> <p>All parents of children evaluated for ID/DD between July 2013 and December 2015 were invited to participate in the study (<emph>n</emph> = 364), and 227 questionnaires were returned. Parents rated their child's development as "normally developed," "mildly delayed" or "severely delayed." Children rated as "normally developed" were excluded (<emph>n</emph> = 5), even when the clinical classification pointed to ID/DD. Participants with insufficient competence in German were also excluded, and some people refused to participate because completing the questionnaire was too time consuming. Questionnaires were sent to the families before the first consultation and were completed by one parent (the mother or the father). Questionnaires and written informed consent were returned at the first hospital visit. The study was authorized by the Ethics Board of the Medical Faculty of the University of Heidelberg. All participants provided written informed consent.</p> <hd id="AN0137846749-5">Methods</hd> <p></p> <hd id="AN0137846749-6">Parental motivations, expectations and socio‐demographic characteristics</hd> <p>In a self‐designed questionnaire written in German, parents answered questions about four‐level Likert‐scaled items. Scores relating to their motivations for finding a diagnosis and their expectations from the diagnosis itself ranged from 1 (disagree completely) to 4 (agree completely). The questionnaire also included questions about socio‐demographic and medical characteristics (e.g., number of siblings, parental educational level and behavioural problems of the child with ID/DD).</p> <hd id="AN0137846749-7">Quality of life (QoL)</hd> <p>Family‐related QoL (FLQ) was assessed with a standardized FLQ questionnaire written in German (Troester, [<reflink idref="bib45" id="ref22">45</reflink>]). The FLQ questionnaire was originally developed for mothers raising children with chronic illness (epilepsy) and was validated in mothers of young boys with Fragile X syndrome (Sarimski, [<reflink idref="bib39" id="ref23">39</reflink>]). Eighteen of the 24 items can be assigned to three subscales: relief from stress and self‐fulfilment, energy and activity, and social support within the family. The FLQ total value was calculated as the sum of all subscales with higher scores indicating higher QoL.</p> <hd id="AN0137846749-8">Mental and physical health of parents</hd> <p>The parents' mental health and physical health were assessed by the German version of the SF‐12 health survey (SF‐12; Bullinger & Kirchberger, [<reflink idref="bib4" id="ref24">4</reflink>]). The SF‐12 is an established measurement tool and is a reliable, comparable and valid instrument for assessing health (Gandek et al., [<reflink idref="bib12" id="ref25">12</reflink>]; Radoschewski & Bellach, [<reflink idref="bib30" id="ref26">30</reflink>]). Two composite summary scores were derived from the items: the physical composite summary and the mental composite summary. For both summary scores, a higher score indicated better health.</p> <hd id="AN0137846749-9">Anxiety of primary caregivers</hd> <p>Anxiety of primary caregivers was assessed by the German version of the State Trait Anxiety Inventory (STAI; Laux, Glanzmann, Schaffner, & Spielberger, [<reflink idref="bib15" id="ref27">15</reflink>]). This questionnaire consists of 20 items related to the current state of anxiety (state anxiety) and 20 items related to anxiety, that is characteristic of the subject's personality (trait anxiety). Raw scores for state and trait anxiety were included in the analyses, and higher scores indicated higher anxiety for both types.</p> <hd id="AN0137846749-10">Analysis</hd> <p>Statistical analyses were performed with SPSS 25 for a Macintosh. All variables were checked for distribution and outliers. For this explorative analysis, the answers to the questionnaires were summarized descriptively as appropriate (mean with standard deviation, median with interquartile range and frequencies). Depending on the scale level of the variable, the chi‐square test, Mann–Whitney <emph>U</emph> test or <emph>t</emph> test were used to compare differences in descriptive variables, parental motivations and expectations, QoL and anxiety levels between the groups (mild ID/DD and severe ID/DD). All <emph>p</emph>‐values are purely descriptive and do not have any confirmatory quality (Abt, [<reflink idref="bib1" id="ref28">1</reflink>]).</p> <hd id="AN0137846749-11">RESULTS</hd> <p></p> <hd id="AN0137846749-12">Sample characteristics</hd> <p>A total of 227 families returned the questionnaires, and 194 of these included complete data for child's sex, rating of child's development, and complete FLQ and SF‐12. These 194 completed questionnaires were included in the analysis. Most questionnaires (89.3%) were filled in by the mothers. The median age of children was 4.5 years (interquartile range: 5.4; range: 0.3–28 years), and 59.3% (<emph>n</emph> = 115) of the participating families had male children (Table). Behavioural problems in the children were reported by 19.6% of parents. The child's development was rated as "severely delayed" by 54.6% (<emph>n</emph> = 106) of parents and as "delayed" by 45.4% (<emph>n</emph> = 88) of parents. Thirty‐two (16.5%) of children were raised by a single parent, and 25.8% (<emph>n</emph> = 50) of children had no siblings. Non‐German nationalities were reported in 32.5% (<emph>n</emph> = 63) of mothers and 36.6% (<emph>n</emph> = 71) of fathers. A university‐entrance diploma or certificate of secondary education was achieved by 35.6% (<emph>n</emph> = 69) of mothers and 39.7% (<emph>n</emph> = 77) of fathers. No graduation was reported in 4.6% (<emph>n</emph> = 9) of mothers and in 39.7% (<emph>n</emph> = 77) of fathers.</p> <p>Descriptives, anxiety, mental/physical health and quality of life of parents who presented their child for neuro‐genetic diagnostic workup and comparison of families with mildly delayed (MD) or severely (SD) delayed children</p> <p> <ephtml> <table><thead valign="top"><tr><th align="left"> </th><th align="left">Total group (<italic>N</italic> = 194)</th><th align="left">MD group (<italic>n</italic> = 88)</th><th align="left">SD group (<italic>n</italic> = 106)</th><th align="left"><italic>p</italic></th></tr></thead><tbody><tr><td align="left">Age child (years) (median, IQR, min–max)<xref ref-type="fn" rid="tfn5" /></td><td align="char" char=".">4.5, 5.4, 0.3–28.7</td><td align="char" char=".">3.8, 4.7, 0.3–16.6</td><td align="char" char=".">5.3, 5.8, 0.3–28.7</td><td align="char" char=".">0.114<xref ref-type="fn" rid="tfn10" /></td></tr><tr><td align="left">Age mother (years) (mean ± SD)</td><td align="char" char=".">37.3 ± 9.5</td><td align="char" char=".">35.5 ± 6.5</td><td align="char" char=".">38.8 ± 11.1</td><td align="char" char=".">0.02</td></tr><tr><td align="left">Age father (years) (mean ± SD)</td><td align="char" char=".">42.4 ± 14.3</td><td align="char" char=".">40.1 ± 11.4</td><td align="char" char=".">44.3 ± 16.1</td><td align="char" char=".">0.04</td></tr><tr><td align="left">Proportion of children with behavioural problems<xref ref-type="fn" rid="tfn6" /></td><td align="char" char=".">19.6</td><td align="char" char=".">13.6</td><td align="char" char=".">24.5</td><td align="char" char=".">0.04</td></tr><tr><td align="left">Number of consulted physicians (mean ± SD, min–max)<xref ref-type="fn" rid="tfn7" /></td><td align="char" char=".">4.2 ± 3.2, 0–20</td><td align="char" char=".">3.3 ± 2.3, 0–15</td><td align="char" char=".">4. 9 ± 3.7, 0–20</td><td align="char" char="."><0.001</td></tr><tr><td align="left">Duration of search for diagnosis (0–1/2–3/4–5/>5 years) (%)<xref ref-type="fn" rid="tfn6" /></td><td align="char" char=".">21.1/28.4/20.1/30.4</td><td align="char" char=".">30.7/30.7/21.6/17.0</td><td align="char" char=".">13.2/26.4/18.9/41.5</td><td align="char" char="."><0.001</td></tr><tr><td align="left">STAI trait raw score (mean ± SD)<xref ref-type="fn" rid="tfn8" /></td><td align="char" char=".">47.4 ± 11.9</td><td align="char" char=".">43.9 ± 10.7</td><td align="char" char=".">50.4 ± 12.2</td><td align="char" char="."><0.001</td></tr><tr><td align="left">STAI state raw score (mean ± SD)<xref ref-type="fn" rid="tfn8" /></td><td align="char" char=".">44.8 ± 10.9</td><td align="char" char=".">41.9 ± 9.2</td><td align="char" char=".">47.3 ± 11.7</td><td align="char" char="."><0.001</td></tr><tr><td align="left">SF‐12 physical composite (mean ± SD)</td><td align="char" char=".">49.8 ± 8.1</td><td align="char" char=".">51.7 ± 6.6</td><td align="char" char=".">48.3 ± 8.9</td><td align="char" char=".">0.003</td></tr><tr><td align="left">SF‐12 mental composite (mean ± SD)</td><td align="char" char=".">43.4 ± 10.6</td><td align="char" char=".">45.5 ± 10.0</td><td align="char" char=".">41.7 ± 10.8</td><td align="char" char=".">0.01</td></tr><tr><td align="left">FLQ relief (mean ± SD)<xref ref-type="fn" rid="tfn9" /></td><td align="char" char=".">14.9 ± 4.6</td><td align="char" char=".">16.1 ± 4.5</td><td align="char" char=".">13.9 ± 4.4</td><td align="char" char=".">0.001</td></tr><tr><td align="left">FLQ energy (mean ± SD)<xref ref-type="fn" rid="tfn9" /></td><td align="char" char=".">18.8 ± 4.8</td><td align="char" char="±">20.9, ±4.2</td><td align="char" char=".">17.0 ± 4.5</td><td align="char" char="."><0.001</td></tr><tr><td align="left">FLQ support (mean ± SD)</td><td align="char" char=".">20.5 ± 5.3</td><td align="char" char=".">21.8 ± 4.5</td><td align="char" char=".">19.4 ± 5.8</td><td align="char" char="."><0.01</td></tr><tr><td align="left">FLQ total score (mean ± SD)</td><td align="char" char=".">54.0 ± 12.0</td><td align="char" char=".">58.6 ± 10.3</td><td align="char" char=".">49.8 ± 11.9</td><td align="char" char="."><0.001</td></tr></tbody></table> </ephtml> </p> <ulist> <item>3 Note</item> <item>4 FLQ: family‐related quality of life questionnaire; IQR: interquartile range; SD: standard deviation; SF‐12: SF‐12 health survey; STAI: State Trait Anxiety Inventory.</item> <item>5 <emph>n</emph> = 179.</item> <item>6 Groups were compared using the chi‐square test. All other comparisons were made using <emph>t</emph> tests.</item> <item>7 <emph>n</emph> = 192.</item> <item>8 <emph>n</emph> = 193.</item> <item>9 <emph>n</emph> = 184.</item> <item>10 Group ages were compared using a non‐parametric median test because of skewed distribution and outliers.</item> </ulist> <hd id="AN0137846749-13">Motivations and expectations of parents</hd> <p>The parental motivations and expectations of the neuropaediatric‐genetic diagnostic workup assessed with the self‐designed questionnaire (Section 2.2.1) are summarized in Table. For most parents, getting a diagnosis was highly important and the majority expected better therapies, special education and financial support for their child after the diagnosis was obtained. In addition, almost 80% of participants suffered from the uncertainty of not knowing the reason for their child's condition and expected the diagnosis to bring emotional relief. About one third of the participants wanted to have another child (<emph>n</emph> = 59, 31.4%), and 81.4% (<emph>n</emph> = 48) of these parents thought a prenatal diagnosis (PND) was relevant. In contrast, only 31.8% (<emph>n</emph> = 41) of parents who were not planning to have another child considered PND relevant (<emph>p</emph> < 0.001).</p> <p>Parents' expectations of and motivations for a neuro‐genetic diagnostic workup and comparison of families with mildly (MD) and severely (SD) delayed children</p> <p> <ephtml> <table><thead valign="top"><tr><th align="left">Parents ...<xref ref-type="fn" rid="tfn13" /></th><th align="left"><p>Total group<xref ref-type="fn" rid="tfn14" /></p><p>Mean ± <italic>SD</italic>, Median (IQR)</p></th><th align="left"><p>MD group<xref ref-type="fn" rid="tfn15" /></p><p>Mean ± <italic>SD</italic>, Median (IQR)</p></th><th align="left"><p>SD group<xref ref-type="fn" rid="tfn16" /></p><p>Mean ± <italic>SD</italic>, Median (IQR)</p></th><th align="left"><italic>p</italic><xref ref-type="fn" rid="tfn17" /></th></tr></thead><tbody><tr><td align="left">Considered finding an aetiologic diagnosis as important</td><td align="char" char=".">3.7 ± 0.5, 4(1)</td><td align="char" char=".">3.6 ± 0.6, 4(0)</td><td align="char" char=".">3.8 ± 0.5, 4(0)</td><td align="char" char=".">0.14</td></tr><tr><td align="left">Had contact to a self‐aid group</td><td align="char" char=".">1.2 ± 0.6, 1(0)</td><td align="char" char=".">1.1 ± 0.47, 1(0)</td><td align="char" char=".">1.3 ± 0.7, 1(0)</td><td align="char" char=".">0.09</td></tr><tr><td align="left">Wished to contact families of children with a similar diagnosis (<italic>n</italic> = 193)</td><td align="char" char=".">2.6 ± 1.1, 3(2)</td><td align="char" char=".">2.4 ± 1,1(2)</td><td align="char" char=".">2.8 ± 1.1, 3(2)</td><td align="char" char=".">0.01</td></tr><tr><td align="left">Expected the diagnosis to improve special needs education</td><td align="char" char=".">3.3 ± 0.9, 4(1)</td><td align="char" char=".">3.3 ± 1.0, 4(1)</td><td align="char" char=".">3.4 ± 0.9, 4(1)</td><td align="char" char=".">0.42</td></tr><tr><td align="left">Expected the diagnosis to provide better therapies</td><td align="char" char=".">3.4 ± 0.8, 4(1)</td><td align="char" char=".">3.3 ± 0.9, 3(1)</td><td align="char" char=".">3.5 ± 0.7, 4(1)</td><td align="char" char=".">0.05</td></tr><tr><td align="left">Expected the diagnosis to bring emotional relief</td><td align="char" char=".">3.2 ± 0.9, 3(1)</td><td align="char" char=".">3.1 ± 0.9, 3(1)</td><td align="char" char=".">3.2 ± 0.9, 3(1)</td><td align="char" char=".">0.63</td></tr><tr><td align="left">Assumed they would have more money if the child had normal development (<italic>n</italic> = 193)</td><td align="char" char=".">2.2 ± 1.2, 2(2)</td><td align="char" char=".">1.8 ± 1.1, 1(1)</td><td align="char" char=".">2.5 ± 1.2, 2(3)</td><td align="char" char="."><0.001</td></tr><tr><td align="left">Expected better support/assistance from their health insurance company and public financial aids (<italic>n</italic> = 192)</td><td align="char" char=".">3.3 ± 0.9, 4(1)</td><td align="char" char=".">3.2 ± 1.0, 3.5(1)</td><td align="char" char=".">3.3 ± 0.9, 4(1)</td><td align="char" char=".">0.26</td></tr><tr><td align="left">Suffered from the uncertainty of not having a diagnosis</td><td align="char" char=".">3.1 ± 1.0, 3(1)</td><td align="char" char=".">2.9 ± 1.1, 3(2)</td><td align="char" char=".">3.2 ± 1.0, 3.5(1)</td><td align="char" char=".">0.08</td></tr><tr><td align="left">Planned to have further children (<italic>n</italic> = 192)</td><td align="char" char=".">1.9 ± 1.2, 1(2)</td><td align="char" char=".">1.9 ± 1.2, 1(2)</td><td align="char" char=".">1.9 ± 1.2, 1(2)</td><td align="char" char=".">0.99</td></tr><tr><td align="left">Considered a diagnosis as relevant to their family planning (<italic>n</italic> = 192)</td><td align="char" char=".">2.0 ± 1.3, 1(3)</td><td align="char" char=".">1.8 ± 1.2, 1(2)</td><td align="char" char=".">2.2 ± 1.4, 1(3)</td><td align="char" char=".">0.10</td></tr><tr><td align="left">Would adapt their family planning according to the knowledge of recurrence risk (<italic>n</italic> = 192)</td><td align="char" char=".">2.0 ± 1.2, 1(2)</td><td align="char" char=".">1.7 ± 1.1, 1(2)</td><td align="char" char=".">2.1 ± 1.3, 1(3)</td><td align="char" char=".">0.07</td></tr><tr><td align="left">Would opt for prenatal diagnostic tests (if available) for the same condition in a further pregnancy (<italic>n</italic> = 189)</td><td align="char" char=".">2.4 ± 1.4, 2(3)</td><td align="char" char=".">2.2 ± 1.4, 1(3)</td><td align="char" char=".">2.6 ± 1.4, 3(3)</td><td align="char" char=".">0.04</td></tr></tbody></table> </ephtml> </p> <ulist> <item>11 Note</item> <item>12 IQR: interquartile range; <emph>SD</emph>: standard deviation.</item> <item>13 The score ranges from 1 (disagree completely) to 4 (agree completely).</item> <item>14 <emph>N</emph> = 194.</item> <item>15 <emph>n</emph> = 88.</item> <item>16 <emph>n</emph> = 106.</item> <item>17 Mann–Whitney <emph>U</emph> test was performed to compare groups.</item> </ulist> <p>In 21.1% of cases (<emph>n</emph> = 41), parents had been searching for a diagnosis for 1 year or less, while 30.4% (<emph>n</emph> = 59) had been searching for more than 5 years before presenting their child for our interdisciplinary neuropaediatric‐genetic consultation. In 18.7% of cases (<emph>n</emph> = 36), the child had been presented to five or more different physicians with the same question before coming to our department.</p> <hd id="AN0137846749-14">Mental and physical health (SF‐12) of parents</hd> <p>The mean physical and mental health scores of parents with an ID/DD child were within the normal range (Table). The mean physical health of participants (SF‐12 score: 49.8) was not statistically different to the normative sample. In contrast, although the mean mental health score was within the normal range (SF‐12 score: 43.4), it was significantly lower in parents with an ID/DD child than in the normative sample (<emph>M</emph> = 50.0; <emph>p</emph> < 0.001).</p> <hd id="AN0137846749-15">Relationship between severity of ID/DD and QoL, mental/physical health, anxiety and practical...</hd> <p>The present authors compared the family‐related QoL (FLQ), mental and physical health (SF‐12) and state/trait anxiety (STAI) of parents who rated their child as "mildly delayed" (MD) with those who rated their child as "severely delayed" (SD). The results are summarized in Table. The child's sex, child's median age, parental school graduation and nationality did not differ descriptively between the two groups. The proportions of single‐parent families and single‐child families were similar in both groups (Table). Mothers and fathers of SD children were older than those with MD children. More children had behavioural disorders in the SD group.</p> <p>Parents of SD children reported lower QoL in all three FLQ subscales and had a lower total FLQ score compared with parents of MD children. Similarly, they had lower mental and physical health scores (SF‐12) and higher state and trait anxiety scores (STAI; all <emph>p</emph> < 0.01).</p> <p>Parents in the SD group rated the need to contact families with a similar diagnosis as higher than parents in the MD group. In addition, parents with SD children expected better therapies after the diagnosis and assumed their financial situation would improve if their child's development was normal more often than parents with MD children did (<emph>p</emph> < 0.05). Furthermore, more parents with SD children would have PND to detect the same condition in a future pregnancy than parents with MD children would (<emph>p</emph> < 0.05; Table). They also consulted a higher number of physicians before presenting their child for the neuropaediatric‐genetic workup than parents with MD children. In 41.5% (<emph>n</emph> = 44) of cases, parents with an SD child had been searching for a diagnosis for more than 5 years, compared with 17.0% (<emph>n</emph> = 15) of parents with an MD child (Table).</p> <hd id="AN0137846749-16">DISCUSSION</hd> <p>Our prospective study of 194 families presenting their children with ID/DD for a genetic evaluation has revealed several important aspects regarding parental motivations and expectations during the diagnostic process.</p> <p>For almost all participants, finding a genetic cause for the ID/DD of their child was highly relevant (Table). This motivation was reflected by how long they had searched for a genetic diagnosis and by the high number of physicians that they consulted with the same question (Table). This finding may be partly explained by the study sample. Since the consultation is voluntary and requires longer waiting times, families with lower motivation are less likely to make an appointment. At this time, the present authors do not know how many parents of children with ID/DD have not received or do not wish to receive basic genetic testing. Nevertheless, clinicians providing neuropaediatric‐genetic consultation will be regularly confronted with families who have high expectations, and these clinicians need to develop the best strategies to cope with these expectations and help these families.</p> <p>Parents may overestimate the probability of finding a diagnosis. Cytogenetic testing can reveal a diagnosis in 3% and array analysis in 15%–20% of children with DD/ID, autism spectrum disorder or multiple congenital anomalies (Miller et al., [<reflink idref="bib24" id="ref29">24</reflink>]). However, the likelihood of finding a genetic cause for the disorder at the end of the recommended genetic diagnostic process depends on numerous factors (Moeschler et al., [<reflink idref="bib25" id="ref30">25</reflink>]). For example, the chance of finding a diagnosis is higher in children with severe intellectual disability, and when additional clinical features such as metabolic abnormalities or malformations/dysmorphic features are observed (Deciphering Developmental Disorders Study, [<reflink idref="bib7" id="ref31">7</reflink>]; Evers et al., [<reflink idref="bib11" id="ref32">11</reflink>]; Tarailo‐Graovac et al., [<reflink idref="bib43" id="ref33">43</reflink>]). In addition, the probability of finding a diagnosis strongly depends on the diagnostic techniques that are available. The diagnostic yield has increased dramatically in the last few years (current range: 25%–68%) since NGS technologies were developed (Cherot et al., [<reflink idref="bib5" id="ref34">5</reflink>]; Deciphering Developmental Disorders Study, [<reflink idref="bib7" id="ref35">7</reflink>]; Evers et al., [<reflink idref="bib11" id="ref36">11</reflink>]; Vissers et al., [<reflink idref="bib48" id="ref37">48</reflink>]; Xiao et al., [<reflink idref="bib50" id="ref38">50</reflink>]). Therefore, it is important to explain to families that even in cases where a genetic cause of intellectual disability is strongly suspected, an aetiological clarification is not guaranteed. The expected chance of finding a diagnosis needs to be properly discussed between parents and physicians to avoid misunderstandings.</p> <hd id="AN0137846749-17">Expectations and motivations of parents</hd> <p>As revealed in a qualitative interview study (Makela, Birch, Friedman, & Marra, [<reflink idref="bib20" id="ref39">20</reflink>]), an important motivation of the parent is the validation of their child's intellectual disability with a genetic diagnosis. The motivations and expectations were also focused on practical aspects, for example treatment guidance, procuring services in school or in the community, and planning PND. Our self‐designed questionnaire (Section 2.2.1; Table) was partly based on these findings, and in the following, the present authors discuss the implications of our results on the clinical routine.</p> <p>When asked what motivated them to seek a genetic diagnosis, the majority of parents reported that they expected a diagnosis to improve the medical therapies available to their child. This must be carefully considered by physicians when communicating with parents, since parents may overestimate what therapy can achieve; they may be expecting a cure or overestimate the therapeutic options available. The treatment options for intellectual disability with a genetic cause range widely from a cure or prevention to an alleviation of associated symptoms. In some syndromes, intellectual disability can be prevented by early therapy, such as a ketogenic diet in children with glucose transporter type 1 deficiency syndrome (Ramm‐Pettersen, Stabell, Nakken, & Selmer, [<reflink idref="bib31" id="ref40">31</reflink>]). For many genetic diagnoses, there is no causal therapy available so far. However, the diagnosis is still very important for selecting targeted treatments, such as specific antiepileptic drugs in patients with <emph>SCN2A</emph> mutations (Wolff et al., [<reflink idref="bib49" id="ref41">49</reflink>]). The effect of these specific drugs on cognitive development has not yet been evaluated, but they will probably improve the QoL of families because the number of seizures in the affected children is reduced. Also, management and surveillance recommendations are now available for a growing number of genetic disorders, such as early onset of low‐vision training and monitoring of weight gain in patients with Cohen syndrome who are at risk of blindness and obesity (Dikow, Karch, Rohrschneider, & Moog, [<reflink idref="bib8" id="ref42">8</reflink>]). Clinical implications following an aetiologic genetic diagnosis have been reported in 26%–78% of cases (Evers et al., [<reflink idref="bib11" id="ref43">11</reflink>]; Meng et al., [<reflink idref="bib22" id="ref44">22</reflink>]; Tan et al., [<reflink idref="bib42" id="ref45">42</reflink>]). In this context, the clinician has to be aware that although these treatments may improve the patient's medical condition and the family's QoL, they do not cure ID/DD in the vast majority of cases. Physicians and parents will have different expectations from treatment, and clinicians must keep this in mind when discussing test results and possible therapies with parents.</p> <p>A large majority of parents expected a diagnosis to bring better support from their health insurance, better health‐related public financial aids and better special needs education. These expectations might be related to some characteristics of the German health and school systems, where, in general, all children with ID/DD receive education, support and medical therapies appropriate to their individual needs. Nevertheless, medical interventions and public financial aids must be officially re‐evaluated periodically. Evidence of a genetic ID/DD syndrome can simplify this process. Similar structures might exist in other countries. In British Columbia, for instance, an additional diagnosis of autism spectrum disorder in a child with ID/DD increased the number of services the child received (Makela et al., [<reflink idref="bib20" id="ref46">20</reflink>]).</p> <p>Everybody has a fundamental right to an education; therefore, education is independent of any medical diagnosis. Going to school is a major part of daily life during childhood and youth (American Psychological Association, [<reflink idref="bib2" id="ref47">2</reflink>]; UN General Assembly, [<reflink idref="bib46" id="ref48">46</reflink>]). In the present and other published studies, parents expected a diagnosis to improve their child's education or believed that it would be more complicated to receive the necessary educational services without a diagnosis (Rosenthal et al., [<reflink idref="bib38" id="ref49">38</reflink>]). With regard to these expectations, families and their physicians should be aware that a genetic diagnosis may help to predict the intellectual disability prognosis in a child with a developmental disorder, but that the severity of almost all syndromes is extremely variable, even when specific subtypes are described, for example, in Prader–Willi syndrome (Roof et al., [<reflink idref="bib36" id="ref50">36</reflink>]) or MAP2K1 RASopathy (Pierpont, Semrud‐Clikeman, & Pierpont, [<reflink idref="bib29" id="ref51">29</reflink>]). Therefore, a comprehensive psychological and educational diagnostic workup is required that considers the functioning level and developmental course of each individual to provide appropriate special needs education, independently from any genetic diagnosis.</p> <p>Parents who have a child with ID/DD might be at risk of having a second child with the same syndrome, but this risk varies greatly. In genetic syndromes, the recurrence risk can be very low (<1%), for example, for de novo copy number variations or de novo heterozygous gene mutations. In contrast, the recurrence risk is 25% for autosomal recessive disorders and up to 50% in the case of X‐linked inheritance. Knowing the recurrence risk enables parents to make informed decisions on family planning. Some families might opt for PND or, in some cases, for pre‐implantation genetic diagnosis. Both require a previous molecular or cytogenetic diagnosis of the affected child. Approximately one third of parents participating in our study planned to have further children and more than 80% of those would opt for PND, if available. The present authors did not ask whether other family members, for example the siblings of the affected child, were planning to start a family in our questionnaire. However, the recurrence risk in siblings' offspring is a frequent and important question during the consultations.</p> <p>The parents' motivations for pursuing a genetic diagnosis and their expectations from the results were not affected by the severity of their child's DD. However, there were a few important aspects that were significantly different between parents with SD and MD children (Table). These differences point to a higher psycho‐social burden in families with an SD child.</p> <hd id="AN0137846749-18">Effect of ID/DD severity on QoL and mental health</hd> <p>As described by several authors, families of a child with ID/DD have to cope with higher stress levels, higher organizational problems and more extensive care for the affected child (Browne & Bramston, [<reflink idref="bib3" id="ref52">3</reflink>]; Parish & Cloud, [<reflink idref="bib27" id="ref53">27</reflink>]). Additionally, the rate of behavioural problems in children with ID/DD is higher (Einfeld, Ellis, & Emerson, [<reflink idref="bib10" id="ref54">10</reflink>]; Munir, [<reflink idref="bib26" id="ref55">26</reflink>]). Hyperactivity and autistic symptoms are particularly challenging and can affect the mental health of caregivers. The lower QoL and lower mental health scores reported by our study group compared with the normative sample are in line with these findings.</p> <p>Almost 80% of the parents said that not knowing the cause of their child's ID/DD made them feel uncertain and undetermined (Section 4.2; Table). This finding is in line with the literature on coping processes in families with disabled or chronically ill children (Graungaard & Skov, [<reflink idref="bib13" id="ref56">13</reflink>]; Retzlaff, Hornig, Muller, Reuner, & Pietz, [<reflink idref="bib34" id="ref57">34</reflink>]; Rolland, [<reflink idref="bib35" id="ref58">35</reflink>]). When the biological cause of a condition has been identified, the prognosis can be predicted and the parents can regain control and activate coping strategies. In a retrospective analysis, the QoL improved in mothers of children with DD/ID or multiple congenital anomalies after a conclusive result from array analysis compared with the group without a diagnosis (Lingen et al., [<reflink idref="bib17" id="ref59">17</reflink>]). Prospective studies should investigate whether these results are reproducible and whether the positive effect on maternal QoL is long term or limited to the time shortly after the diagnosis is received.</p> <p>Parents with an SD child showed disadvantages in physical and mental health, family‐related QoL and anxiety compared with those with an MD child, and these parents also visited more physicians (up to 20 physicians were consulted). The time and effort that parents invest in finding a diagnosis seems to be related to the severity of the ID/DD. To reduce the negative impacts of this time‐consuming process on families who already have a number of problems to cope with, information about specialized neuropaediatric‐genetic consultations should be provided by paediatricians and family doctors as soon as possible. Parents of SD children reported a greater need to contact other parents of children with a similar diagnosis than parents of an MD child. This may further reflect a higher need for social support in families of SD children, who might feel isolated by their situation (Rosenthal et al., [<reflink idref="bib38" id="ref60">38</reflink>]). Family doctors and paediatricians need to be aware of the considerable disadvantages that parents of an SD child face and be even more vigilant about offering practical and psychological support to these families.</p> <hd id="AN0137846749-19">Limitations</hd> <p>Our prospective study included a substantial number of participants and provided explorative data and several perspectives for future studies. However, the data were collected during neuropaediatric‐genetic consultations in a university hospital and not all invited families agreed to participate. Therefore, the sample is not representative and the findings cannot be generalized. The most common reason for refusing to participate was inability to complete the time‐consuming assessment. Future studies should try to solve this potential bias. The present authors assume that families with a higher burden refrained from participation, and their dropout may have caused an underestimation of mental or physical health problems in parents.</p> <p>The present authors excluded families with insufficient German language skills. Validated translations of the FLQ and the self‐designed questionnaire would be necessary to determine whether families with different socio‐cultural backgrounds have similar expectations from a diagnosis and the same burdens while raising a child with ID/DD.</p> <p>Severity of ID/DD was classified by parental rating and was not confirmed by an in‐person assessment. Although the present authors cannot exclude a certain bias, previous studies have shown that parents can accurately rate their child's cognitive development (Perra et al., [<reflink idref="bib28" id="ref61">28</reflink>]; Saudino et al., [<reflink idref="bib40" id="ref62">40</reflink>]; Thal, O'Hanlon, Clemmons, & Fralin, [<reflink idref="bib44" id="ref63">44</reflink>]). Nevertheless, a comprehensive evaluation of each child's development and cognitive skills by a clinical developmental psychologist is necessary to better understand the results and provide better counselling for the families, and this should be considered in future studies.</p> <p>Another limitation was that some parents did not answer all the questions; therefore, several data were missing. However, the present authors only analysed those questionnaires with a completed core set of variables (sex of child, DD rating, parents' need to find a diagnosis, total FLQ score and total SF‐12 score). Missing data were not imputed. Only a small proportion of parents answering the questionnaires were fathers; therefore, the present authors did not analyse the answers from mothers and fathers separately. Future studies should investigate whether the motivations and expectations of mothers and fathers are different.</p> <hd id="AN0137846749-20">CONCLUSIONS</hd> <p>Parents of children with ID/DD reported several important expectations from a genetic diagnostic workup. These expectations focused on practical daily issues, emotional relief and diagnostic certainty. Because of these expectations, parents invested considerable time and effort consulting numerous experts. The present authors found that severity of the child's ID/DD correlated strongly with their parents' mental and physical health, QoL and anxiety.</p> <p>Parents of SD children suffer greater psychological burdens and have more practical and psychological expectations from a diagnosis than parents of MD children. Therefore, it is particularly important for these families to receive practical, social and psychological support together with genetic testing. This support should involve high‐quality genetic counselling to resolve conflicts between parental expectations and realistic consequences of knowing a diagnosis.</p> <hd id="AN0137846749-21">ACKNOWLEDGMENT</hd> <p>Nicola Dikow received a grant from the Nachwuchsakademie Versorgungsforschung of the state Baden Württemberg. The present authors gratefully thank all families for their participation.</p> <hd id="AN0137846749-22">CONFLICT OF INTEREST</hd> <p>The authors declare no conflict of interest.</p> <ref id="AN0137846749-23"> <title> REFERENCES </title> <blist> <bibl id="bib1" idref="ref28" type="bt">1</bibl> <bibtext> Abt, K. (1987). Descriptive data analysis: A concept between confirmatory and exploratory data analysis. 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  Data: What Do Parents Expect from a Genetic Diagnosis of Their Child with Intellectual Disability?
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  Data: English
– Name: Author
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  Data: <searchLink fieldCode="AR" term="%22Dikow%2C+Nicola%22">Dikow, Nicola</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0003-4631-9829">0000-0003-4631-9829</externalLink>)<br /><searchLink fieldCode="AR" term="%22Moog%2C+Ute%22">Moog, Ute</searchLink><br /><searchLink fieldCode="AR" term="%22Karch%2C+Stephanie%22">Karch, Stephanie</searchLink><br /><searchLink fieldCode="AR" term="%22Sander%2C+Anja%22">Sander, Anja</searchLink><br /><searchLink fieldCode="AR" term="%22Kilian%2C+Samuel%22">Kilian, Samuel</searchLink><br /><searchLink fieldCode="AR" term="%22Blank%2C+Rainer%22">Blank, Rainer</searchLink><br /><searchLink fieldCode="AR" term="%22Reuner%2C+Gitta%22">Reuner, Gitta</searchLink>
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  Data: <searchLink fieldCode="SO" term="%22Journal+of+Applied+Research+in+Intellectual+Disabilities%22"><i>Journal of Applied Research in Intellectual Disabilities</i></searchLink>. Sep 2019 32(5):1129-1137.
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  Data: Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA
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  Data: Y
– Name: Pages
  Label: Page Count
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  Data: 9
– Name: DatePubCY
  Label: Publication Date
  Group: Date
  Data: 2019
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: Journal Articles<br />Reports - Research
– Name: Subject
  Label: Descriptors
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Parent+Attitudes%22">Parent Attitudes</searchLink><br /><searchLink fieldCode="DE" term="%22Expectation%22">Expectation</searchLink><br /><searchLink fieldCode="DE" term="%22Clinical+Diagnosis%22">Clinical Diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Children%22">Children</searchLink><br /><searchLink fieldCode="DE" term="%22Intellectual+Disability%22">Intellectual Disability</searchLink><br /><searchLink fieldCode="DE" term="%22Quality+of+Life%22">Quality of Life</searchLink><br /><searchLink fieldCode="DE" term="%22Severity+%28of+Disability%29%22">Severity (of Disability)</searchLink>
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  Data: 10.1111/jar.12602
– Name: ISSN
  Label: ISSN
  Group: ISSN
  Data: 1360-2322
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Caring for a child with intellectual disability (ID) has been associated with increased social and psychological burdens. Diagnostic and prognostic uncertainty may enhance emotional stress in families. Method: The present authors assessed the motivations, expectations, mental health, physical health and the quality of life of 194 parents whose children with intellectual disability were undergoing a genetic diagnostic workup. Results: Most parents considered a diagnosis highly relevant for their own emotional relief, their child's therapies and education, or family planning. Parental mental health was significantly lower compared with the normative sample, but physical health was not different. The severity of the child's intellectual disability correlated negatively with their parents' mental and physical health, quality of life, and positively with parental anxiety. Conclusion: Healthcare providers should be aware of the disadvantages facing families with intellectually disabled children. Receiving practical, social and psychological support as well as genetic testing might be particularly relevant for families with severely disabled children.
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  Data: 2019
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  Data: EJ1223859
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      – Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 1129
    Subjects:
      – SubjectFull: Parent Attitudes
        Type: general
      – SubjectFull: Expectation
        Type: general
      – SubjectFull: Clinical Diagnosis
        Type: general
      – SubjectFull: Genetics
        Type: general
      – SubjectFull: Children
        Type: general
      – SubjectFull: Intellectual Disability
        Type: general
      – SubjectFull: Quality of Life
        Type: general
      – SubjectFull: Severity (of Disability)
        Type: general
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      – TitleFull: What Do Parents Expect from a Genetic Diagnosis of Their Child with Intellectual Disability?
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