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© Borgis - New Medicine 1/2010, s. 7-11
*Małgorzata Lisik1, Aleksander Sieroń1, Małgorzata Janas-Kozik2, Irena Krupka-Matuszczyk2
Psychological well-being of mothers of children with fragile X syndrome
1Department of General, Molecular Biology and Genetics, Medical University of Silesia, Katowice
Head of Department: prof. dr hab. Aleksander L. Sieroń
2Department and Clinic of Psychiatry and Psychotherapy, Medical University of Silesia, Katowice
Head of Department: prof. dr hab. Irena Krupka-Matuszczyk
Summary
Aim. The aim of our study was to assess the influence of raising mentally retarded children with fragile X syndrome (FXS) on the mother's psychological status.
Material and method. The study included 15 mothers of children diagnosed with FXS. The tests included: Beck's Depression Inventory (BDI), the Hamilton Rating Scale for Depression (HAM-D), and the Minnesota Multiphasic Personality Inventory (MMPI).
Results. Results obtained in BDI and HAM-D did not show any depressive symptoms. The results obtained in control MMPI scales showed significantly higher values of the Infrequency-Psychopathology (Fp) scale, with the mean result 76.2 T. The results obtained in clinical MMPI scales were within the normal range. Clinical subscales (Harris-Lingoes scales) showed higher values for Hy4 (somatic complaints) subscales.
Conclusion. Mothers of FXS children commonly experience feelings of blame, guilt, embarrassment, and stigmatization. The diagnosis of fragile X syndrome can also have far-reaching genetic and emotional implications for extended family members.



Introduction
Fragile X syndrome (FXS,MIM # 309550), the most common inherited form of mental retardation, is due to a unique mutation that leads to the silencing of the FMR1gene. It has an estimated frequency of 1/4000 men and 1/8000 women. The mutation is due to an expansion of an unstable CGG repeat sequence located in the 5' untranslated region of the FMR1gene. The full mutation (FM) consists of over 200 repeats and is abnormally hypermethylated. As a consequence, no mRNA is produced and the lack of the gene product, FMRP, an RNA-binding protein, is responsible for the clinical picture of the disease (1, 2). The FMR1gene in its normal state produces a protein that is thought to play a key role in both pre- and postnatal brain development. Fragile X mental retardation protein (FMRP) is expressed in a variety of tissues, but it is most abundant in neurons. The fragile X premutation alleles (PM) are defined by a CGG expansion within the range of approximately 55-200 repeats, and generate some protein. Premutations are unstably transmitted from mother to child and associated with a significant risk of further expansion to a full mutation during oogenesis and postzygotic mitosis in succeeding generations. The prevalence of the FMR1premutation in the general population is relatively high, occurring in an estimated 1 per 813 men and 1 per 259 women (2). The clinical consequence of the expanded CGG repeat in the FMR1gene was thought to be restricted to those with full mutation. The behavioural phenotype of FXS includes hyperarousal, social anxiety and withdrawal, social deficits with peers, abnormalities in communication, unusual responses to sensory stimuli, stereotypic behaviour, gaze aversion, autism spectrum disorders, inattention, impulsivity, and hyperactivity (1, 2). The phenotype in females with fragile X is usually less distinct than in males. Cognitive defects and behavioural problems, such as shyness, attention problems, and anxiety, are less conspicuous than in affected males. There is also evidence that differences in CGG trinucleotide repeat sizes within premutation ranges may affect clinical involvement (2). However, the unmethylated long CGG tract in premutation carriers has been associated with specific phenotypes unrelated to FXS. 20-25% of carriers of PM have prominent ears, flexible finger joints, mild learning disabilities, and emotional problems such as mood lability, anxiety and social phobia. Shyness often associated with poor eye contact is a common complaint of females with the premutation and was observed in 36% of women with the premutation compared to 18% of controls (3, 4).
Aim
The aim of our study was to assess the influence of raising mentally retarded children with FXS on the mother's psychological status.
material and methods
The study was conducted at the Department of General, Molecular Biology and Genetics, Medical University of Silesia in Katowice, from February to May 2008. Study participants were informed of the purpose of the study and all provided their informed consent. The procedures were conducted in accordance with Institutional Guidelines and Regulations and with the Guidelines for the Conduct of Research Involving Human Subjects approved by the appropriate institutional review board (IRB) Bioethical Committee of the Medical University of Silesia in Katowice, PL, No. L.dz. KNW-6501-185/07/08. The study included 15 mothers of children diagnosed with FXS. They were Caucasians/white. The group as a whole ranged in age from 28 to 48 years (M= 40.2, SD=5), with an average of 11.21 years of education (range 8-12, SD=1.05). The participants were asked to complete a questionnaire regarding topics such as personal and family history of mental illness, medication use, and demographic information, and were referred for psychological evaluation consisting of clinical review followed by psychological testing. The tests were administered in the following order: BDI, HAM-D and MMPI. BDI and HAM-D were used to rate the severity of a patient's depression (5, 6). MMPI is a 567-item true/false inventory used to evaluate the thoughts, emotions, attitudes, and behavioural traits that comprise personality. The results of the MMPI test reflect an adolescent's personality strengths and weaknesses, and may identify certain disturbances of personality (psychopathologies) or mental deficits caused by neurological problems. There are validity scales L, F, and K that suggest whether the patient responded to the test items in a manner that would produce valid results. The remaining scales are the clinical scales, numbered 1-9 and 0, originally labelled: Hy (hypochondria), D (depression), Hs (hysteria), Pd (psychopathic deviation), Mf (masculinity-femininity), Pa (paranoia), Pt (psychasthenia), Sc (schizophrenia), Ma (hypomania), Si (social introversion), designed to measure common types of psychopathology. There are also subscales of the clinical scales developed by Harris et al., which have come to be widely used. Statistical analyses were performed using Kruskal-Wallis test. We chose a value of p<0.0001 as the level of statistical significance. Spearman test was used to compare results obtained in BDI, HAM-D scales and clinical, Harris-Lingoes MMPI scales.
Results
Results obtained in BDI and HAM-D were within the normal results and did not show any depressive symptoms. The results obtained in control MMPI scales showed significantly higher values of the Infrequency-Psychopathology (Fp) scale, with the mean result 76.2 T (tab. 1). The results obtained in clinical MMPI scales were within the normal range. Clinical subscales, so-called Harris-Lingoes scales, showed higher values for Hy4 (somatic complaints) subscales, with the mean score 69.27 (tab. 2). The analysis of results obtained in BDI and HAM-D scales and control, clinical and Harris-Lingoes MMPI scales showed an existing correlation. Results obtained in the BDI scale showed a statistically significant positive correlation with the results of the Pt (psychasthenia) scale and negative with the results in the Ma (hypomania) scale (tab. 3). There was a statistically significant positive correlation between BDI scale and Harris-Lingoes subscales in D1, D4, D5 and Sc3. There was also a positive correlation between HAM-D scale and Harris-Lingoes subscales in D1 and Hy3 (tab. 4). In mothers of children with FXS we could observe tension, anxiety and phobic behaviour. They may feel guilty.
Table 1. MMPI control scale scores of mothers of FXS sons.
VRINTRINFFbFpLKS
VRIN p=1.00001.00001.00000.18061.00001.00001.0000
TRIN 1.0000p=1.00001.00001.00001.00000.61920.5981
F1.00001.0000p=1.00000.38161.00001.00001.0000
Fb1.00001.00001.0000p=0.08831.00001.00001.0000
Fp0.18061.00000.38160.0883p=0.01460.00040.0004
L1.00001.00001.00001.00000.0146p=1.00001.0000
K1.00000.61921.00001.00000.00041.0000p=1.0000
S1.00000.59811.00001.00000.00041.00001.0000p=
Table 2. Harris-Lingoes scales (Hy subscales) of mothers of FXS sons.
Hy1Hy2Hy3Hy4Hy5
Hy11.00001.00000.00091.0000
Hy21.00000.11550.00000.0918
Hy31.00000.11550.13621.0000
Hy40.00090.00000.13620.1696
Hy51.00000.09181.00000.1696
Table 3. Correlation of Beck Scale result with MMPI clinical scale results of mothers of FXS sons.
Correlated parametersNR Spearmant(N-2)level p
Beck vs Hs15-0.0926-0.33550.7426
Beck vs D150.33971.30220.2155
Beck vs Hy150.09680.35080.7314
Beck vs Pd150.20290.74710.4683
Beck vs Mf150.32411.23520.2386
Beck vs Pa150.46321.88440.0821
Beck vs Pt150.60182.71700.0176
Beck vs Sc150.31491.19640.2529
Beck vs Ma15-0.61012.77640.0157
Beck vs Si15-0.0181-0.06520.9490
Table 4. Correlation of Hamilton scale results with MMPI clinical scale results in mothers of FXS sons.
Correlated parametersNR Spearmant(N-2)level p
Hamilton vs Hs15-0.0190-0.06840.9465
Hamilton vs D150.47271.93400.0752
Hamilton vs Hy150.19460.71520.4871
Hamilton vs Pd150.24200.89930.3848
Hamilton vs Mf15-0.0780-0.28200.7824
Hamilton vs Pa150.12110.43990.6673
Hamilton vs Pt150.66683.22640.0066
Hamilton vs Sc150.26450.98880.3408
Hamilton vs Ma15-0.54202.32520.0369
Hamilton vs Si15-0.1529-0.55780.5865
Discussion

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Piśmiennictwo
1. Hagerman RJ: The physical and behavioral phenotype. In Hagerman, RJ & Hagerman PJ Fragile X syndrome, diagnosis, treatment and research (3rd Ed. pp3-109) Baltimore: Johns Hopkins University Press 2002. 2. Nussbaum RJ, Ledbetter A: The fragile X syndrome. In Scriver CR, Beaudet AL, Sly W, Valle D, Stanbury JB. The metabolic and molecular bases of inherited diseases. New York; McHill 2001; 795-806. 3. Hagerman RJ, Hagerman PJ: The fragile X premutation: into phenotypic fold. Curr Opin Genet Dev.2002; 12: 278-83. 4. Van Esch, H: The fragile X premutation: new insights and clinical consequences. Eur J Med Genet 2006; 49, 1-8. 5. Beck AT et al.: An inventory for measuring depression. Arch Gen Psych. 1961; 4: 561-571. 6. Hamilton M: Development of a rating scale for primary depressive illness. Br J Soc Clin Psychol 1967; 6: 278-296. 7. Hessl D et al.: Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B. 2005; 139: 115-21. 8. Franke P et al.: Fragile-X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 1996; 64: 334-9. 9. Johnston C et al.: Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet 2001; 1-6. 10. Lewis P et al.: Psychological well-being of youth with fragile X syndrome: syndrome specificity and within variability. J Intel Disab Res 2006; 50: 894-904. 11. Abbeduto L et al.: Psychological well-being and coping in mothers of youth with autism, Down syndrome, or Fragile X syndrome. Am J Ment Retard 2004; 109: 237-254. 12. Bailey DB: Newborn screening for fragile X syndrome. Ment Retard Dev Disab Res Rev 2004; 10:3-10. 13. de Vries BBA, van den Berg, HMA, Niermeijer MF, Tiben A: Dilemmas in counselling females with the fragile X syndrome. J Med Genet 1999; 36:167-70. 14. McConkie-Rosell A et al.: Genetic counseling for fragile X syndrome: Updated recommendations of the National Society of Genetic Counsellors. J Genet Couns 2005; 14: 249-270. 15. Sherman SL, Pletcher BA, Driscoll DA: Fragile X syndrome: Diagnostic and carrier testing. Gen Med 2005; 7: 584-587. 16. Anido A, Carlson LM, Taft L, Sherman S: Women's attitudes toward testing for fragile X carrier status: A quantitative analysis. J Gen Couns 2005; 14: 295-306.
otrzymano: 2010-01-02
zaakceptowano do druku: 2010-01-11

Adres do korespondencji:
*Małgorzata Lisik
Department of General, Molecular Biology and Genetics, Medical University of Silesia
Medyków Str. 18, 40-752 Katowice, Poland
phone: +48 32 208 83 82
e-mail: mlisik@sum.edu.pl

New Medicine 1/2010
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