The Impact of Rare Genetic Disorders on Family Functioning
Main Article Content
Abstract
The increasing presence of genetic neurodevelopmental disorders (NDDs) results in greater demands for counseling. Many studies focus on the characteristics of patients, but less on family functioning. The aim of this study is to objectify parental stress and to study its relationship with child characteristics and environmental factors across several syndromes.
56 individuals with NDD participated: 24 with Kleefstra Syndrome, 13 with Koolen-de Vries Syndrome, and 19 with other rare (mono) genetic disorders. Parents were asked to complete the General Functioning subscale of the Family Assessment Device (FAD-GF), the Child Behavioral Checklist, and a questionnaire about demographic parental data.
25.5% of the families scored above the cut-off for pathological stress (>2.17). The mean FAD–GF score was 1.84. There was no significant difference between mean FAD-score of the subgroups (p=0,70).
(Para)medical counselors should address this high amount of parental stress during counseling and consider these genetic syndromes as complex chronical illnesses.
Article Details
How to Cite
VERMEULEN, Karlijn et al.
The Impact of Rare Genetic Disorders on Family Functioning.
Medical Research Archives, [S.l.], v. 9, n. 11, nov. 2021.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/2598>. Date accessed: 22 dec. 2024.
doi: https://doi.org/10.18103/mra.v9i11.2598.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
1. Manor-Binyamini I. Mothers of children with developmental disorders in the bedouin community in Israel: family functioning, caregiver burden, and coping abilities. J Autism Dev Disord. 2011;41(5):610-7.
2. Minnes P, Perry A, Weiss JA. Predictors of distress and well-being in parents of young children with developmental delays and disabilities: the importance of parent perceptions. J Intellect Disabil Res. 2015;59(6):551-60.
3. Baker BL, Blacher J, Olsson MB. Preschool children with and without developmental delay: behaviour problems, parents' optimism and well-being. J Intellect Disabil Res. 2005;49(Pt 8):575-90.
4. Abbeduto L, Seltzer MM, Shattuck P, Krauss MW, Orsmond G, Murphy MM. Psychological well-being and coping in mothers of youths with autism, Down syndrome, or fragile X syndrome. Am J Met Retard. 2004;109(3):237-54.
5. Jozefiak T, Wallander JL. Perceived family functioning, adolescent psychopathology and quality of life in the general population: a 6-month follow-up study. Qual Life Res. 2016;25(4):959-67.
6. Leonard BJ, Jang YP, Savik K, Plumbo MA. Adolescents with type 1 diabetes: family functioning and metabolic control. J Fam Nurs. 2005;11(2):102-21.
7. Vermeulen K, Willemsen MH. Klinische Genetica. In: Didden R, Troost P, Moonen X, Groen W, editors. Handboek Psychiatrie en lichte verstandelijke beperking. Utrecht: De Tijdstroom; 2016. p. 309-30.
8. Verhoeven WMA, Egger JIM. Etiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours. J Intellect Dis- Diagnosis and Treatment. 2014;2:83-93.
9. Verhoeven WM, Egger JI. 22q11.2 deletion syndrome: atypical antipsychotics and relapsing psychoses. Pharmacopsychiatry. 2015;48(6):220-1.
10. Norton M, Dyches TT, Harper JM, Roper SO, Caldarella P. Respite Care, Stress, Uplifts, and Marital Quality in Parents of Children with Down Syndrome. J Autism Dev Disord. 2016;46(12):3700-11.
11. Hodapp RM. Families of persons with Down syndrome: new perspectives, findings, and research and service needs. Ment Retard Dev Disabil Res Rev. 2007;13(3):279-87.
12. Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, et al. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. Am J Med Genet A. 2017.
13. Willemsen MH, Kleefstra T. Making headway with genetic diagnostics of intellectual disabilities. Clin Genet. 2013.
14. DDD-study. Deciphering Developmental Disorders Study: Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-8.
15. Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006;79(2):370-7.
16. Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. 2009;46(9):598-606.
17. Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, et al. Update on Kleefstra Syndrome. Mol Syndromol. 2012;2(3-5):202-12.
18. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001.
19. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006;38(9):1038-42.
20. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006;38(9):1032-7.
21. Byles J, Byrne C, Boyle MH, Offord DR. Ontario Child Health Study: reliability and validity of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 1988;27(1):97-104.
22. Guxens M, Tiemeier H, Jansen PW, Raat H, Hofman A, Sunyer J, et al. Parental psychological distress during pregnancy and early growth in preschool children: the generation R study. Am J Epidemiol. 2013;177(6):538-47.
23. Verhage. Intelligentie en leeftijd: Onderzoek bij Nederlanders van twaalf tot
zevenenzeventig jaar. Assen, The Netherlands (van Gorcum): Rijksuniversiteit Groningen; 1964.
24. de Bildt A, Kraijer D, Sytema S, Minderaa R. The psychometric properties of the Vineland Adaptive Behavior Scales in children and adolescents with mental retardation. J Autism Dev Disord. 2005;35(1):53-62.
25. Moss S. PH, Costello H., Simpson N., Patel P. The Mini PAS-ADD. An assessment schedule for the detection of mental health problems in adults with developmental disabilities. Manchester: University of Manchester, Hester Adrian Research Centre; 1997.
26. Janssen R, Maes B. Psychometric evaluation of a Dutch version of the Mini PAS-ADD for assessing psychiatric disorders in adults with different levels of intellectual disability. J Intellect Disabil Res. 2012.
27. Prosser H, Moss S, Costello H, Simpson N, Patel P, Rowe S. Reliability and validity of the Mini PAS-ADD for assessing psychiatric disorders in adults with intellectual disability. J Intellect Disabil Res. 1998;42 ( Pt 4):264-72.
28. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et al. Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 1989;19(2):185-212.
29. Lord C, Rutter M, DiLavore PC, Risi S. ADOS. Autism diagnostic observation schedule. Manual. Los Angeles: WPS; 1999.
30. Havdahl KA, Hus Bal V, Huerta M, Pickles A, Øyen AS, Stoltenberg C, et al. Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research. J Am Acad Child Adolesc Psychiatry. 2016;55(12):1054-63.e3.
31. Vermeulen K, Egger JIM, Janzing JGE, van Dongen L, van Bokhoven H, Kleefstra T, et al. The Context of Symptom Measures: Interpretation and Clinical Diagnosis of Autism Spectrum Disorders in Intellectual Disabilities. J Am Acad Child Adolesc Psychiatry.2017;56(7):618-9.
32. Achenbach TM, Rescorla, L.A. Manual for the ASEBA Preschool Forms & Profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth, and Families; 2000.
33. Verhulst FC, van der Ende J. Six-year stability of parent-reported problem behavior in an epidemiological sample. J Abnorm Child Psychol. 1992;20(6):595-610.
34. Borthwick-Duffy SA, Lane KL, Widaman KF. Measuring problem behaviors in children with mental retardation: dimensions and predictors. Res Dev Disabil. 1997;18(6):415-33.
35. Young ME, Galvan T, Reidy BL, Pescosolido MF, Kim KL, Seymour K, et al. Family functioning deficits in bipolar disorder and ADHD in youth. J Affect Disord. 2013;150(3):1096-102.
36. Sturge-Apple ML, Jones HR, Suor JH. When stress gets into your head: Socioeconomic risk, executive functions, and maternal sensitivity across childrearing contexts. J Fam Psychol. 2017;31(2):160-9.
37. Association AP, Kernberg. Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5): American Psychiatric Publishing; 2013.
38. Parkes A, Sweeting H, Wight D. Parenting stress and parent support among mothers with high and low education. J Fam Psychol. 2015;29(6):907-18.
39. Chen E, Miller GE. Socioeconomic status and health: mediating and moderating factors. Annu Rev Clin Psychol. 2013;9:723-49.
40. Diamond A. Executive functions. Annu Rev Psychol. 2013;64:135-68.
41. Johnson SB, Riis JL, Noble KG. State of the Art Review: Poverty and the Developing Brain. Pediatrics. 2016;137(4).
42. Bradley RH, Corwyn RF. Socioeconomic status and child development. Annu Rev Psychol. 2002;53:371-99.
43. Petcharat M, Liehr P. Mindfulness training for parents of children with special needs: Guidance for nurses in mental health practice. J Child Adolesc Psychiatr Nurs. 2017;30(1):35-46.
44. Roberts LR, Neece CL. Feasibility of Mindfulness-based Stress Reduction Intervention for Parents of Children with Developmental Delays. Issues Ment Health Nurs. 2015;36(8):592-602.
45. Bornstein MH, Putnick DL, Suwalsky JTD. Parenting cognitions → parenting practices → child adjustment? The standard model. Dev Psychopathol. 2017:1-18.
46. Möricke E, Buitelaar JK, Rommelse NN. Do We Need Multiple Informants When Assessing Autistic Traits? The Degree of Report Bias on Offspring, Self, and Spouse Ratings. J Autism Dev Disord. 2016;46(1):164-75.
2. Minnes P, Perry A, Weiss JA. Predictors of distress and well-being in parents of young children with developmental delays and disabilities: the importance of parent perceptions. J Intellect Disabil Res. 2015;59(6):551-60.
3. Baker BL, Blacher J, Olsson MB. Preschool children with and without developmental delay: behaviour problems, parents' optimism and well-being. J Intellect Disabil Res. 2005;49(Pt 8):575-90.
4. Abbeduto L, Seltzer MM, Shattuck P, Krauss MW, Orsmond G, Murphy MM. Psychological well-being and coping in mothers of youths with autism, Down syndrome, or fragile X syndrome. Am J Met Retard. 2004;109(3):237-54.
5. Jozefiak T, Wallander JL. Perceived family functioning, adolescent psychopathology and quality of life in the general population: a 6-month follow-up study. Qual Life Res. 2016;25(4):959-67.
6. Leonard BJ, Jang YP, Savik K, Plumbo MA. Adolescents with type 1 diabetes: family functioning and metabolic control. J Fam Nurs. 2005;11(2):102-21.
7. Vermeulen K, Willemsen MH. Klinische Genetica. In: Didden R, Troost P, Moonen X, Groen W, editors. Handboek Psychiatrie en lichte verstandelijke beperking. Utrecht: De Tijdstroom; 2016. p. 309-30.
8. Verhoeven WMA, Egger JIM. Etiology Based Diagnosis and Treatment Selection in Intellectually Disabled People with Challenging Behaviours. J Intellect Dis- Diagnosis and Treatment. 2014;2:83-93.
9. Verhoeven WM, Egger JI. 22q11.2 deletion syndrome: atypical antipsychotics and relapsing psychoses. Pharmacopsychiatry. 2015;48(6):220-1.
10. Norton M, Dyches TT, Harper JM, Roper SO, Caldarella P. Respite Care, Stress, Uplifts, and Marital Quality in Parents of Children with Down Syndrome. J Autism Dev Disord. 2016;46(12):3700-11.
11. Hodapp RM. Families of persons with Down syndrome: new perspectives, findings, and research and service needs. Ment Retard Dev Disabil Res Rev. 2007;13(3):279-87.
12. Vermeulen K, de Boer A, Janzing JGE, Koolen DA, Ockeloen CW, Willemsen MH, et al. Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. Am J Med Genet A. 2017.
13. Willemsen MH, Kleefstra T. Making headway with genetic diagnostics of intellectual disabilities. Clin Genet. 2013.
14. DDD-study. Deciphering Developmental Disorders Study: Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-8.
15. Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006;79(2):370-7.
16. Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. 2009;46(9):598-606.
17. Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, et al. Update on Kleefstra Syndrome. Mol Syndromol. 2012;2(3-5):202-12.
18. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001.
19. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006;38(9):1038-42.
20. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006;38(9):1032-7.
21. Byles J, Byrne C, Boyle MH, Offord DR. Ontario Child Health Study: reliability and validity of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 1988;27(1):97-104.
22. Guxens M, Tiemeier H, Jansen PW, Raat H, Hofman A, Sunyer J, et al. Parental psychological distress during pregnancy and early growth in preschool children: the generation R study. Am J Epidemiol. 2013;177(6):538-47.
23. Verhage. Intelligentie en leeftijd: Onderzoek bij Nederlanders van twaalf tot
zevenenzeventig jaar. Assen, The Netherlands (van Gorcum): Rijksuniversiteit Groningen; 1964.
24. de Bildt A, Kraijer D, Sytema S, Minderaa R. The psychometric properties of the Vineland Adaptive Behavior Scales in children and adolescents with mental retardation. J Autism Dev Disord. 2005;35(1):53-62.
25. Moss S. PH, Costello H., Simpson N., Patel P. The Mini PAS-ADD. An assessment schedule for the detection of mental health problems in adults with developmental disabilities. Manchester: University of Manchester, Hester Adrian Research Centre; 1997.
26. Janssen R, Maes B. Psychometric evaluation of a Dutch version of the Mini PAS-ADD for assessing psychiatric disorders in adults with different levels of intellectual disability. J Intellect Disabil Res. 2012.
27. Prosser H, Moss S, Costello H, Simpson N, Patel P, Rowe S. Reliability and validity of the Mini PAS-ADD for assessing psychiatric disorders in adults with intellectual disability. J Intellect Disabil Res. 1998;42 ( Pt 4):264-72.
28. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et al. Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord. 1989;19(2):185-212.
29. Lord C, Rutter M, DiLavore PC, Risi S. ADOS. Autism diagnostic observation schedule. Manual. Los Angeles: WPS; 1999.
30. Havdahl KA, Hus Bal V, Huerta M, Pickles A, Øyen AS, Stoltenberg C, et al. Multidimensional Influences on Autism Symptom Measures: Implications for Use in Etiological Research. J Am Acad Child Adolesc Psychiatry. 2016;55(12):1054-63.e3.
31. Vermeulen K, Egger JIM, Janzing JGE, van Dongen L, van Bokhoven H, Kleefstra T, et al. The Context of Symptom Measures: Interpretation and Clinical Diagnosis of Autism Spectrum Disorders in Intellectual Disabilities. J Am Acad Child Adolesc Psychiatry.2017;56(7):618-9.
32. Achenbach TM, Rescorla, L.A. Manual for the ASEBA Preschool Forms & Profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth, and Families; 2000.
33. Verhulst FC, van der Ende J. Six-year stability of parent-reported problem behavior in an epidemiological sample. J Abnorm Child Psychol. 1992;20(6):595-610.
34. Borthwick-Duffy SA, Lane KL, Widaman KF. Measuring problem behaviors in children with mental retardation: dimensions and predictors. Res Dev Disabil. 1997;18(6):415-33.
35. Young ME, Galvan T, Reidy BL, Pescosolido MF, Kim KL, Seymour K, et al. Family functioning deficits in bipolar disorder and ADHD in youth. J Affect Disord. 2013;150(3):1096-102.
36. Sturge-Apple ML, Jones HR, Suor JH. When stress gets into your head: Socioeconomic risk, executive functions, and maternal sensitivity across childrearing contexts. J Fam Psychol. 2017;31(2):160-9.
37. Association AP, Kernberg. Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5): American Psychiatric Publishing; 2013.
38. Parkes A, Sweeting H, Wight D. Parenting stress and parent support among mothers with high and low education. J Fam Psychol. 2015;29(6):907-18.
39. Chen E, Miller GE. Socioeconomic status and health: mediating and moderating factors. Annu Rev Clin Psychol. 2013;9:723-49.
40. Diamond A. Executive functions. Annu Rev Psychol. 2013;64:135-68.
41. Johnson SB, Riis JL, Noble KG. State of the Art Review: Poverty and the Developing Brain. Pediatrics. 2016;137(4).
42. Bradley RH, Corwyn RF. Socioeconomic status and child development. Annu Rev Psychol. 2002;53:371-99.
43. Petcharat M, Liehr P. Mindfulness training for parents of children with special needs: Guidance for nurses in mental health practice. J Child Adolesc Psychiatr Nurs. 2017;30(1):35-46.
44. Roberts LR, Neece CL. Feasibility of Mindfulness-based Stress Reduction Intervention for Parents of Children with Developmental Delays. Issues Ment Health Nurs. 2015;36(8):592-602.
45. Bornstein MH, Putnick DL, Suwalsky JTD. Parenting cognitions → parenting practices → child adjustment? The standard model. Dev Psychopathol. 2017:1-18.
46. Möricke E, Buitelaar JK, Rommelse NN. Do We Need Multiple Informants When Assessing Autistic Traits? The Degree of Report Bias on Offspring, Self, and Spouse Ratings. J Autism Dev Disord. 2016;46(1):164-75.