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An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome Kathryn F. Peters1,3 and Leslie G. Biesecker2
Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment. KEY WORDS: Depression; Proteus syndrome; genetic counseling.
INTRODUCTION Proteus syndrome is a hamartoneoplastic condition characterized by epidermal linear verrucous nevi, connective tissue nevi (“moccasin lesion”), hemihyperplasia, hyperostoses, irregular growth of the extremities, and visceral anomalies 1 Office of the Clinical Director. 2 Genetic Disease Research Branch,
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. 3 Correspondence should be directed to Kathryn F. Peters, Pennsylvania State University, Center for Developmental and Health Genetics, 101 Amy Gardner House, University Park, Pennsylvania 16802; e-mail: [email protected]. 161 C 2000 National Society of Genetic Counselors, Inc. 1059-7700/00/0400-0161$18.00/1 °
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(Cohen and Hayden, 1979). This extremely rare, variable condition was aptly named after the Greek god Proteus, who could change shape (Wiedemann et al., 1983). Physical findings of the disorder are usually present at birth, progress significantly with age, and often require repeated surgical treatment. The cause of Proteus syndrome remains unknown. Happle et al. (1997) hypothesized that the disorder results from somatic mosaicism for a lethal mutation, explaining the mosaic distribution, sporadic occurrence, and discordance in monozygotic twins. Other overgrowth conditions are at times mistaken for Proteus syndrome (Biesecker et al., 1998). Our clinical experience has revealed that parents of individuals with Proteus syndrome face a unique combination of psychosocial issues. That is, parents of individuals with Proteus syndrome face psychosocial challenges in common with parents of children with other multiple congenital anomaly syndromes. For example, these challenges may include “courtesy stigma” (Goffman, 1963), grieving the loss of the “wished-for child” (Moses, 1979), and coping with “chronic sorrow” (Olshansky, 1962). Additionally, parents of individuals with Proteus syndrome have psychosocial concerns similar to those faced by parents of children with progressive syndromes, such as cancer syndromes. For example, in our clinic, parents of individuals with Proteus syndrome repeatedly report that they are worried about the progression of their child’s condition. Consequently, the delineation and analysis of psychological and social issues for parents of individuals with Proteus syndrome can yield information useful in providing genetic counseling to parents of children affected by a variety of conditions. The purpose of this report is to describe the depression status in parents of individuals with Proteus syndrome. Although relatively common, depressed mood can exacerbate the already difficult tasks of caring for, and coping with, a child with a chronic condition. Recent studies have found point prevalence rates for major depression in the general population to be between 2% and 5% (Weissman et al., 1991; Blazer et al., 1994). Data have shown that overall, the rate of depression in women is two to three times higher than in men (Depression Guideline Panel, 1993). Through a meta-analysis of over 80 epidemiological studies of depression, Katon and Schulberg (1992) noted a prevalence rate of 5–10% in patients seen in the primary-care setting. In Clayton’s (1990) model of bereavement based on her qualitative research, depression is the highlighted as the second stage grieving individuals pass through in the normal grief process. Although the time course is variable, acute signs of reactive depression usually resolve within a short time, with most individuals showing signs of recovery about 4 months after the precipitating event (Clayton, 1990). Because genetics professionals are familiar with depressive symptoms as part of the bereavement and adjustment processes in parents of children affected with genetic syndromes, they are ideally situated to assess for excessive depressive symptoms in parents of individuals with genetic conditions and refer these parents for further evaluation and intervention.
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Independent of context, depressed mood can substantially hinder a parent from accomplishing important tasks (Wells et al., 1989). Consequently, several studies have attempted to document the frequency of depression in a variety of parent populations, in an attempt to begin to better document and understand this phenomenon. The studies have included parents of children with mental retardation (Fisman et al., 1989; Scott et al., 1997), attention deficit disorder (Cunningham et al., 1988), cystic fibrosis (Quittner et al., 1992, 1998), phenylketonuria (Kazak et al., 1988), cancer (Magni et al., 1983; Speechley and Noh, 1992; Manne et al., 1995; Allen et al., 1997), heart defects (Rona et al., 1998), cerebral palsy (Lambrenos et al., 1996), and a mixture of disabilities (Breslau and Davis, 1986; Gowen et al., 1989; Smith et al., 1993). The outcomes of these studies have been mixed. Some studies have found that there is an increased frequency of depressive symptoms among parents of affected children (Magni et al., 1983; Cunningham et al., 1988; Fisman et al., 1989; Quittner et al., 1992; Smith et al., 1993; Manne et al., 1995; Allen et al., 1997; Scott et al., 1997; Rona et al., 1998), whereas other studies had negative findings (Breslau and Davis, 1986; Kasak et al., 1988; Gowen et al., 1989; Speechley and Noh, 1992; Lambrenos et al., 1996; Quittner et al., 1998). The variability of these results may be attributed to heterogeneity of the parent subjects, the conditions affecting the children, or the depression assessment tools. The timing of the assessments relative to the children’s developmental stages or time of diagnosis may also play a role. These results suggest that depression is a common but not universal finding among parents of children with genetic conditions and other chronic illnesses and that further studies are necessary to guide professionals in their approach to families affected with these disorders. Based on the clinical symptoms of Proteus syndrome and our experiences with the families with chronic conditions, we hypothesized that parents of children with Proteus syndrome would show signs of depression as a result of their children’s condition and its accompanying problems. We also hypothesized that specific depression symptoms would be reported more frequently in the depressed parent cohort than the other half of the parent group. Genetic professionals may use these data to identify parents struggling with depression and to direct them to effective interventions.
METHODS Study Design Data were gathered under an National Human Genome Research Institute (NHGRI) protocol, which had been reviewed and approved by the National Cancer Institute Institutional Review Board.
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Study Population Thirty-four parents of individuals with a prior diagnosis of Proteus syndrome were recruited for the protocol. The Proteus Syndrome Foundation, an international support group, referred 24 of the parents to the study. Medical practitioners referred the others. For all but 2 parents, an affected child of each parent was also enrolled in a NHGRI natural history and molecular characterization study of Proteus syndrome. Study Instrument The parents completed a questionnaire, consisting of 13 demographic questions, 1 item regarding parental confidence in the diagnosis of Proteus syndrome for their child, and a quantitative assessment of depression. Parental confidence in their child’s diagnosis was assessed using a 5-point Likert scale (strongly agree; agree; uncertain; disagree; strongly disagree), because multiple features of Proteus syndrome overlap with other overgrowth conditions (Biesecker et al., 1998). Depression symptoms were measured using the Beck Depression Inventory (BDI; Beck, 1978), which contains 21 items, with four choices each. We chose to use the BDI because it measures the presence or absence of 21 specific clinical symptoms of depression (Table I) and the degree of each symptom (Beck and Beamesderfer, 1974). Additionally, a large body of literature supports the reliability and validity of Table I. Clinical Symptoms of Depression Assessed by the Beck Depression Inventory 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21.
Mood Pessimism Sense of failure Lack of satisfaction Guilty feeling Sense of punishment Self-dislike Self-accusations Suicidal wishes Crying spells Irritability Social withdrawal Indecisiveness Distortion of body image Work inhibition Sleep disturbance Fatigability Loss of appetite Weight loss Somatic preoccupation Loss of libido
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the BDI, and it is one of the most widely used instruments for detecting depression in psychiatric and normal populations (See Beck et al., 1988, for a review). The BDI may be either self-administered or verbally administered in person or over the telephone (Beck and Steer, 1987). As recommended, scores of 0–9, 10–15, 16–19, 20–29, and 30–68 were used for normal, mild, mild-moderate, moderate-severe, and severe depression symptoms, respectively (Beck and Steer, 1987). Assessment Eighteen mothers and seven fathers completed the written instrument at the NIH, and one father elected to complete the inventory at home. One of us (KP) administered the instrument verbally to two mothers and three fathers, who participated in the study by telephone. Clinical psychiatric assessments were recommended to participants who scored as having mild, mild-moderate, moderatesevere, or severe symptoms of depression on the BDI. RESULTS Thirty-one parents (twenty mothers and eleven fathers) elected to participate in this study. Tables II and III summarize the demographic variables of the parent participants and their affected children in this study. Over 96% of the parents were white/Caucasian. The mean age of the subjects was 37.6 years (SD: 6.7), 36.9 years (SD: 7.2) for the mothers and 36.5 years (SD: 7.6) for the fathers. A minority of participants lived in rural areas (16%). Over 80% of the study participants had completed at least some college, and 74% were working either full time or part time. Eighty-four percent of the parents were married or in a permanent relationship with the affected child’s other biological parent at the time of the assessment. The majority of the affected children had been diagnosed with Proteus syndrome before the age of 4 years. The median age of the affected children at the time of this evaluation was 7 years. One child of one parental dyad in the study had died 6 years before this assessment. The average number of children in each family was 2.0 (SD: 0.7). Table III also shows the results of the item assessing parental confidence in diagnosis of Proteus syndrome for their child. At the time of the study, over 80% of the parents reported that they strongly agreed or agreed with the diagnosis of Proteus syndrome for their child. The remaining parents were uncertain. No parent disagreed with the diagnosis of Proteus syndrome for his or her child. The study population can be separated into two groups, based on their BDI scores. Group 1 consisted of parents who scored in the mild, mild-moderate, and moderate-severe ranges of depressive symptoms. Group 2 consisted of parents who did not have notable depressive symptoms. As shown in Table IV, two mothers scored in the mild symptom range, one mother scored in the mild-moderate
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Peters and Biesecker Table II. Study Participant Demographics Percentage Ethnic background (n = 31) White Non-white Mean age (in years) Total (n = 31) Male (n = 11): Female (n = 20): Home locality (n = 31) Rural Small city/town Urban (city) Major metropolitan area Level of education (n = 31) Less than high school diploma High school diploma Some college or technical school College diploma Some graduate or professional school Graduate or professional degree Employment (n = 31) Full-time employed Part-time employed Not employed Marital Status (n = 31) Married/permanent relationship Widowed Divorced
97 3 37.6 (SD: 6.7) 36.6 (SD: 7.2) 36.5 (SD: 7.6) 16 39 36 9 3 16 36 29 9 7 58 16 26 84 3 13
Table III. Demographics of Affected Children of Study Participants Percentage Current age of affected child (n = 19)a 0–3 years 4–6 years 7–9 years 10+ years Age of affected child at diagnosis (n = 20) 0–3 years 4–6 years 7–9 years 10+ years Parental confidence in diagnosis (n = 31) Strongly agree Agree Uncertain Disagree Strongly disagree a One
child died at the age of 5 years.
32 16 16 36 60 25 10 5 55 26 19 0 0
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Table IV. Scores on Beck Depression Inventory
Normal Depression Mild Mild-moderate Moderate-severe Severe a Actual
Mothers (20)a
Fathers (11)
Total (31)
80% (16)
72.7% (8)
77.4% (24)
10% (2) 5% (1) 5% (1) 0% (0)
0% (0) 18.2% (2) 9.1% (1) 0% (0)
6.5% (2) 9.6% (3) 6.6% (2) 0% (0)
numbers are shown in parentheses.
symptom range, and one mother scored in the moderate-severe symptom range. Two fathers scored in the mild-moderate symptom range, and one father scored in the moderate-severe symptom range for depression. Altogether, approximately 23% of parents (4/20 mothers and 3/11 fathers) had positive results on the BDI. All parents who scored positive on the screening inventory agreed or strongly agreed with the diagnosis of Proteus syndrome for their child. BDI scores were not correlated with gender, age of parent, current age of affected child, nor age of affected child at diagnosis. After the completion of the inventory, we learned that two of the seven parents in Group 1 were currently receiving treatment for depression. Of the remaining five, two elected to consult with an NIH psychiatrist. The consulting psychiatrist in both cases confirmed significant clinical depression. In total, approximately 13% of the total parent cohort (3 mothers and 1 father) was confirmed to have clinical depression by a physician. Using Fisher’s exact test, the BDI data were analyzed to determine if there were any significant differences in the frequency of specific depressive symptoms between Group 1 and Group 2. The results showed that the following 10 clinical symptoms were more frequently reported in Group 1 than in Group 2: pessimism ( p = 0.03) sense of failure ( p = 0.03), lack of satisfaction ( p < 0.001), sense of punishment ( p < 0.001), self-dislike ( p = 0.01), social withdrawal ( p < 0.001), indecisiveness ( p = 0.002), somatic preoccupation ( p = 0.002), and loss of libido ( p = 0.002). These items were not significantly correlated with gender, age of parent, current age of affected child, nor age of affected child at diagnosis.
DISCUSSION In the data described here, approximately 23% of the study participants were found to have positive results on a depression screening test. Approximately 13% were subsequently confirmed to have significant depression requiring medical attention. It is likely that the three parents who did not accept the psychiatric referral would also be found to be depressed by clinical evaluation. The frequency
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of confirmed clinical depression we report for this parent cohort is higher than that cited by Weissman et al. (1991) and Blazer et al. (1994) for the general population. The statistical significance of the difference is difficult to compute, because of the inexact nature of the general population frequency value. The frequency of depressive symptoms in this cohort may underestimate the true prevalence because of selection bias. That is, the parents in this sample had to be highly motivated and organized to gain access to this study. The majority of the parents were members of the Proteus Syndrome Foundation, a group that provides both emotional and instrumental support for its members. In addition, many of these parents serve as primary advocates and information sources on their children’s disorders within their local health professional systems (Proteus Syndrome Foundation, personal communication). We hypothesize that these attributes select for parents who are less likely to be depressed. As listed in Table I, the items of the BDI are derived from clinical observations and records of the attitudes and symptoms of individuals suffering from depression (Beck and Beamesderfer, 1974). In this study, the following 10 clinical features of depression were more frequently reported by the parents who had mild, mildmoderate, and moderate-severe symptom scores on the BDI: pessimism, sense of failure, lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido. It is important to note that the latter three symptoms are somatic complaints. It has been noted that individuals seeking relief from depressive symptoms in the primarycare setting often focus on somatic complaints (Katon, 1987). This presentation can delay the diagnosis of depression until the completion of medical evaluations to rule out physical reasons for the symptoms. Somatization can also lead to incorrect treatment of symptoms. Consequently, it is recommended that medical professionals consider somatic complaints not only as signs of physical ailments but also as features of depression (Katon, 1987; Kuzel, 1996). These data indicate that clinical assessments for signs of depression in parents of individuals with Proteus syndrome and other rare overgrowth conditions is warranted. Attention should be given not only to affective symptoms but also to physical complaints. Genetic counselors and other genetics professionals have a unique familiarity with rare conditions, the bereavement process, and other psychological issues common in families with genetic conditions. Thus, genetic professionals are ideally situated to assess symptoms of depression in parents of their patients with Proteus syndrome and similar conditions and to refer parents for psychotherapeutic and/or pharmacological interventions. In recent years, the treatment for depression has advanced so that over 80% of affected individuals experience significant relief from symptoms with either medication, psychotherapy, or a combination of the two modalities (Kuzel, 1996). Many affected individuals receive treatment for depression from their primarycare physicians, social workers, and psychotherapists. Studies have shown that
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primary-care providers can effectively manage mild psychiatric issues (Brown and Schulberg, 1998). The small sample size is a limitation of this study. This is an unavoidable feature of a study on parents of individuals with rare conditions and is balanced against the specificity gained by studying a carefully defined population. It is also important to note that study participants cared for children with a progressive and potentially disfiguring condition. This feature may limit the generalizabilty of these results to parents caring for children with stable or less aesthetically disfiguring disorders. Further delineation of the practical and emotional issues for parents of children with Proteus syndrome will provide additional insight into the psychosocial challenges faced by these parents. For example, since anxiety is frequently coupled with depressive symptoms (Mineka et al., 1998), additional studies should assess for both of these problems. Additional studies may highlight other psychosocial issues besides depression that require intervention. Subsequent studies may illustrate better ways to address parental concerns through genetic counseling. Finally, much is to be learned from the majority of parents who do not suffer from depression. A study of these parents may demonstrate parental coping strategies or family characteristics that predict and promote emotional adjustment. Further research on the emotional reactions of parents with children with genetic conditions may allow genetics professionals to be able to better identify those parents who require more extensive counseling interventions or referrals to mental health services. ACKNOWLEDGMENTS The authors thank the parents who participated in this study; the Proteus Syndrome Foundation (www.proteus-syndrome.org) for encouragement and support; Barbara Bowles Biesecker, M.S., for helpful comments regarding the study design and editing this manuscript; and Seth Steinberg, Ph.D., for statistical assistance. REFERENCES Allen R, Newman SP, Souhami RL (1997) Anxiety and depression in adolescent cancer: Findings in patients and parents at the time of diagnosis. Eur J Cancer 33:1250–1255. Beck AT (1978) Beck Depression Inventory. Philadelphia: Center for Cognitive Therapy. Beck AT, Beamesderfer A (1974) Assessment of depression: The depression inventory. In: Pichot P (ed) Psychological Measurements in Psychopharmacology, Vol. 7, Modern Problems in Pharmacopsychiatry. Basel, Switzerland: Karger, pp 151–169. Beck AT, Steer RA (1987) Beck Depression Inventory Manual. San Antonio, TX: Harcourt Brace Jovanovich. Beck AT, Steer RA, Garbin MG (1988) Psychometric properties of the Beck Depression Inventory: Twenty-five years of evaluation. Clin Psychol Rev 8:77–100.
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Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, Schimke N, Cunningham M, Meltzer P, Cohen MM (1998) Clinical differentiation between Proteus syndrome and hemihyperplasia: Description of a distinct form of hemihyperplasia. Am J Med Genet 79:311–318. Blazer D, Kessler R, McGonagle K, Swartz MS (1994). The prevalence and distribution of major depression in a national community sample: The National Comorbity Survey. Am J Psychiatr 151:979–989. Breslau N, Davis GC (1986) Chronic stress and major depression. Arch Gen Psychiatr 43:309–314. Brown C, Schulberg, HC (1998) Diagnosis and treatment of depression in primary medical care practice: The application of research findings to clinical practice. J Clin Psychol 54:303–314. Clayton PJ (1990) Bereavement and depression. J Clin Psychiatr 51[7(suppl)]:34–38. Cohen MM, Hayden PW (1979) A newly recognized hamartomatous syndrome. Birth Defects 15:291– 296. Cunningham CE, Benness BB, Siegel LS (1988) Family functioning, time allocation, and parental depression in the families of normal and ADDH children. J Clin Child Psychol 17:169–177. Depression Guideline Panel (1993) Depression in Primary Care. Vol 1. Detection and Diagnosis. (Clinical practice guideline No. 5) Rockville, MD: Department of Health and Human Services, AHCPR publication No. 93-0550. Fisman SN, Wolf LC, Noh S (1989) Marital intimacy in parents of exceptional children. Can J Psychiatr 34:519–525. Gowen JW, Johnson-Martin N, Goldman BD, Appelbaum M (1989) Feelings of depression and parenting competence of mothers of handicapped and nonhandicapped infants: A longitudinal analysis. Am J Ment Retard 94:259–271. Happle R, Steijlen PM, Theile U, Karitzky D, Tinschert S, Albrecht-Nebe H, Kuster W (1997) Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome. Arch Dermatol 133:77– 80. Katon W (1987) The epidemiology of depression in medical care. Int J Psychiatry Med 17:93–112. Katon W, Schulberg H (1992) Epidemiology of depression in primary care. Gen Hosp Psychiatr 14:237–247. Kazak AE, Reber M, Snitzer L (1988) Childhood chronic disease and family functioning: A study of phenylketonuria. Pediatrics 81:224–230. Kuzel R (1996) Management of depression: Current trends in primary care. Postgrad Med 99:179–195. Lambrenos K, Weindling AM, Calam R, Cox AD (1996) The effect of a child’s disability on a mother’s mental health. Arch Dis Child 74:115–120. Magni G, Messina C, DeLeo D, Mosconi A, Carli M (1983) Psychological distress in parents of children with acute lymphatic leukemia. Acta Psychiatr Scand 68:297–300. Manne SL, Lesanics D, Meyers P, Wollner N, Steinherz P, Redd W (1995) Predictors of depressive symptomatology among parents of newly diagnosed children with cancer. J Pediatr Psychol 20:491–510. Mineka S, Watson D, Clark, LA (1998) Comorbidity of anxiety and unipolar mood disorders. Annu Rev Psychol 49:377–412. Moses KL (1979) Parenting a hearing impaired child. Volta Rev 81(2):73–80. Olshansky, S (1962) Chronic sorrow: A response to having a mentally defective child. Soc Casework 43:190–193. Quittner AL, DiGirolamo AM, Michel M, Eigen H (1992) Parental response to cystic fibrosis: A contextual analysis of the diagnosis phase. J Pediatr Psychol 17:683–704. Quittner AL, Espelage DL, Opipari LC, Carter B, Eid N, Eigen H (1998) Role strain in couples with and without a child with a chronic illness: Associations with marital satisfaction, intimacy, and daily mood. Health Psychol 17:112–124. Rona RJ, Smeeton NC, Beech R, Barnett A, Sharland G (1998) Anxiety and depression in mothers related to severe malformation of the heart of the child and foetus. Acta Paediatr 87:201–205. Scott BD, Atkinson L, Minton HL, Bowman T (1997) Psychological distress of parents of infants with Down syndrome. Am J Ment Retard 102:161–171. Smith TB, Innocenti MS, Boyce GC, Smith CS (1993) Depressive symptomatology and interaction behaviors of mothers having a child with disabilities. Psychol Rep 73:1184–1186. Speechley KN, Noh S (1992) Surviving childhood cancer, social support, and parents’ psychological adjustment. J Pediatr Psychol 17:15–31.
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Weissman M, Bruce M, Leaf P, Florio L, Holzer C (1991) Affective disorders. In: Robins L, Regier D (eds) Psychiatric Disorders in America. New York: Free Press, pp 53–80. Wells KM, Stewart A, Hays RD, Burnam A, Rogers W, Daniesl M, Berry S, Greenfield S, Ware J (1989) The functioning and well-being of depressed patients: Results from the Medical Outcomes Study. JAMA 262:914–919. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E (1983) The Proteus syndrome: Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrodactyly or skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5–12.
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An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome Kathryn F. Peters1,3 and Leslie G. Biesecker2
Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment. KEY WORDS: Depression; Proteus syndrome; genetic counseling.
INTRODUCTION Proteus syndrome is a hamartoneoplastic condition characterized by epidermal linear verrucous nevi, connective tissue nevi (“moccasin lesion”), hemihyperplasia, hyperostoses, irregular growth of the extremities, and visceral anomalies 1 Office of the Clinical Director. 2 Genetic Disease Research Branch,
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. 3 Correspondence should be directed to Kathryn F. Peters, Pennsylvania State University, Center for Developmental and Health Genetics, 101 Amy Gardner House, University Park, Pennsylvania 16802; e-mail: [email protected]. 161 C 2000 National Society of Genetic Counselors, Inc. 1059-7700/00/0400-0161$18.00/1 °
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(Cohen and Hayden, 1979). This extremely rare, variable condition was aptly named after the Greek god Proteus, who could change shape (Wiedemann et al., 1983). Physical findings of the disorder are usually present at birth, progress significantly with age, and often require repeated surgical treatment. The cause of Proteus syndrome remains unknown. Happle et al. (1997) hypothesized that the disorder results from somatic mosaicism for a lethal mutation, explaining the mosaic distribution, sporadic occurrence, and discordance in monozygotic twins. Other overgrowth conditions are at times mistaken for Proteus syndrome (Biesecker et al., 1998). Our clinical experience has revealed that parents of individuals with Proteus syndrome face a unique combination of psychosocial issues. That is, parents of individuals with Proteus syndrome face psychosocial challenges in common with parents of children with other multiple congenital anomaly syndromes. For example, these challenges may include “courtesy stigma” (Goffman, 1963), grieving the loss of the “wished-for child” (Moses, 1979), and coping with “chronic sorrow” (Olshansky, 1962). Additionally, parents of individuals with Proteus syndrome have psychosocial concerns similar to those faced by parents of children with progressive syndromes, such as cancer syndromes. For example, in our clinic, parents of individuals with Proteus syndrome repeatedly report that they are worried about the progression of their child’s condition. Consequently, the delineation and analysis of psychological and social issues for parents of individuals with Proteus syndrome can yield information useful in providing genetic counseling to parents of children affected by a variety of conditions. The purpose of this report is to describe the depression status in parents of individuals with Proteus syndrome. Although relatively common, depressed mood can exacerbate the already difficult tasks of caring for, and coping with, a child with a chronic condition. Recent studies have found point prevalence rates for major depression in the general population to be between 2% and 5% (Weissman et al., 1991; Blazer et al., 1994). Data have shown that overall, the rate of depression in women is two to three times higher than in men (Depression Guideline Panel, 1993). Through a meta-analysis of over 80 epidemiological studies of depression, Katon and Schulberg (1992) noted a prevalence rate of 5–10% in patients seen in the primary-care setting. In Clayton’s (1990) model of bereavement based on her qualitative research, depression is the highlighted as the second stage grieving individuals pass through in the normal grief process. Although the time course is variable, acute signs of reactive depression usually resolve within a short time, with most individuals showing signs of recovery about 4 months after the precipitating event (Clayton, 1990). Because genetics professionals are familiar with depressive symptoms as part of the bereavement and adjustment processes in parents of children affected with genetic syndromes, they are ideally situated to assess for excessive depressive symptoms in parents of individuals with genetic conditions and refer these parents for further evaluation and intervention.
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Independent of context, depressed mood can substantially hinder a parent from accomplishing important tasks (Wells et al., 1989). Consequently, several studies have attempted to document the frequency of depression in a variety of parent populations, in an attempt to begin to better document and understand this phenomenon. The studies have included parents of children with mental retardation (Fisman et al., 1989; Scott et al., 1997), attention deficit disorder (Cunningham et al., 1988), cystic fibrosis (Quittner et al., 1992, 1998), phenylketonuria (Kazak et al., 1988), cancer (Magni et al., 1983; Speechley and Noh, 1992; Manne et al., 1995; Allen et al., 1997), heart defects (Rona et al., 1998), cerebral palsy (Lambrenos et al., 1996), and a mixture of disabilities (Breslau and Davis, 1986; Gowen et al., 1989; Smith et al., 1993). The outcomes of these studies have been mixed. Some studies have found that there is an increased frequency of depressive symptoms among parents of affected children (Magni et al., 1983; Cunningham et al., 1988; Fisman et al., 1989; Quittner et al., 1992; Smith et al., 1993; Manne et al., 1995; Allen et al., 1997; Scott et al., 1997; Rona et al., 1998), whereas other studies had negative findings (Breslau and Davis, 1986; Kasak et al., 1988; Gowen et al., 1989; Speechley and Noh, 1992; Lambrenos et al., 1996; Quittner et al., 1998). The variability of these results may be attributed to heterogeneity of the parent subjects, the conditions affecting the children, or the depression assessment tools. The timing of the assessments relative to the children’s developmental stages or time of diagnosis may also play a role. These results suggest that depression is a common but not universal finding among parents of children with genetic conditions and other chronic illnesses and that further studies are necessary to guide professionals in their approach to families affected with these disorders. Based on the clinical symptoms of Proteus syndrome and our experiences with the families with chronic conditions, we hypothesized that parents of children with Proteus syndrome would show signs of depression as a result of their children’s condition and its accompanying problems. We also hypothesized that specific depression symptoms would be reported more frequently in the depressed parent cohort than the other half of the parent group. Genetic professionals may use these data to identify parents struggling with depression and to direct them to effective interventions.
METHODS Study Design Data were gathered under an National Human Genome Research Institute (NHGRI) protocol, which had been reviewed and approved by the National Cancer Institute Institutional Review Board.
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Study Population Thirty-four parents of individuals with a prior diagnosis of Proteus syndrome were recruited for the protocol. The Proteus Syndrome Foundation, an international support group, referred 24 of the parents to the study. Medical practitioners referred the others. For all but 2 parents, an affected child of each parent was also enrolled in a NHGRI natural history and molecular characterization study of Proteus syndrome. Study Instrument The parents completed a questionnaire, consisting of 13 demographic questions, 1 item regarding parental confidence in the diagnosis of Proteus syndrome for their child, and a quantitative assessment of depression. Parental confidence in their child’s diagnosis was assessed using a 5-point Likert scale (strongly agree; agree; uncertain; disagree; strongly disagree), because multiple features of Proteus syndrome overlap with other overgrowth conditions (Biesecker et al., 1998). Depression symptoms were measured using the Beck Depression Inventory (BDI; Beck, 1978), which contains 21 items, with four choices each. We chose to use the BDI because it measures the presence or absence of 21 specific clinical symptoms of depression (Table I) and the degree of each symptom (Beck and Beamesderfer, 1974). Additionally, a large body of literature supports the reliability and validity of Table I. Clinical Symptoms of Depression Assessed by the Beck Depression Inventory 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21.
Mood Pessimism Sense of failure Lack of satisfaction Guilty feeling Sense of punishment Self-dislike Self-accusations Suicidal wishes Crying spells Irritability Social withdrawal Indecisiveness Distortion of body image Work inhibition Sleep disturbance Fatigability Loss of appetite Weight loss Somatic preoccupation Loss of libido
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the BDI, and it is one of the most widely used instruments for detecting depression in psychiatric and normal populations (See Beck et al., 1988, for a review). The BDI may be either self-administered or verbally administered in person or over the telephone (Beck and Steer, 1987). As recommended, scores of 0–9, 10–15, 16–19, 20–29, and 30–68 were used for normal, mild, mild-moderate, moderate-severe, and severe depression symptoms, respectively (Beck and Steer, 1987). Assessment Eighteen mothers and seven fathers completed the written instrument at the NIH, and one father elected to complete the inventory at home. One of us (KP) administered the instrument verbally to two mothers and three fathers, who participated in the study by telephone. Clinical psychiatric assessments were recommended to participants who scored as having mild, mild-moderate, moderatesevere, or severe symptoms of depression on the BDI. RESULTS Thirty-one parents (twenty mothers and eleven fathers) elected to participate in this study. Tables II and III summarize the demographic variables of the parent participants and their affected children in this study. Over 96% of the parents were white/Caucasian. The mean age of the subjects was 37.6 years (SD: 6.7), 36.9 years (SD: 7.2) for the mothers and 36.5 years (SD: 7.6) for the fathers. A minority of participants lived in rural areas (16%). Over 80% of the study participants had completed at least some college, and 74% were working either full time or part time. Eighty-four percent of the parents were married or in a permanent relationship with the affected child’s other biological parent at the time of the assessment. The majority of the affected children had been diagnosed with Proteus syndrome before the age of 4 years. The median age of the affected children at the time of this evaluation was 7 years. One child of one parental dyad in the study had died 6 years before this assessment. The average number of children in each family was 2.0 (SD: 0.7). Table III also shows the results of the item assessing parental confidence in diagnosis of Proteus syndrome for their child. At the time of the study, over 80% of the parents reported that they strongly agreed or agreed with the diagnosis of Proteus syndrome for their child. The remaining parents were uncertain. No parent disagreed with the diagnosis of Proteus syndrome for his or her child. The study population can be separated into two groups, based on their BDI scores. Group 1 consisted of parents who scored in the mild, mild-moderate, and moderate-severe ranges of depressive symptoms. Group 2 consisted of parents who did not have notable depressive symptoms. As shown in Table IV, two mothers scored in the mild symptom range, one mother scored in the mild-moderate
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Peters and Biesecker Table II. Study Participant Demographics Percentage Ethnic background (n = 31) White Non-white Mean age (in years) Total (n = 31) Male (n = 11): Female (n = 20): Home locality (n = 31) Rural Small city/town Urban (city) Major metropolitan area Level of education (n = 31) Less than high school diploma High school diploma Some college or technical school College diploma Some graduate or professional school Graduate or professional degree Employment (n = 31) Full-time employed Part-time employed Not employed Marital Status (n = 31) Married/permanent relationship Widowed Divorced
97 3 37.6 (SD: 6.7) 36.6 (SD: 7.2) 36.5 (SD: 7.6) 16 39 36 9 3 16 36 29 9 7 58 16 26 84 3 13
Table III. Demographics of Affected Children of Study Participants Percentage Current age of affected child (n = 19)a 0–3 years 4–6 years 7–9 years 10+ years Age of affected child at diagnosis (n = 20) 0–3 years 4–6 years 7–9 years 10+ years Parental confidence in diagnosis (n = 31) Strongly agree Agree Uncertain Disagree Strongly disagree a One
child died at the age of 5 years.
32 16 16 36 60 25 10 5 55 26 19 0 0
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Table IV. Scores on Beck Depression Inventory
Normal Depression Mild Mild-moderate Moderate-severe Severe a Actual
Mothers (20)a
Fathers (11)
Total (31)
80% (16)
72.7% (8)
77.4% (24)
10% (2) 5% (1) 5% (1) 0% (0)
0% (0) 18.2% (2) 9.1% (1) 0% (0)
6.5% (2) 9.6% (3) 6.6% (2) 0% (0)
numbers are shown in parentheses.
symptom range, and one mother scored in the moderate-severe symptom range. Two fathers scored in the mild-moderate symptom range, and one father scored in the moderate-severe symptom range for depression. Altogether, approximately 23% of parents (4/20 mothers and 3/11 fathers) had positive results on the BDI. All parents who scored positive on the screening inventory agreed or strongly agreed with the diagnosis of Proteus syndrome for their child. BDI scores were not correlated with gender, age of parent, current age of affected child, nor age of affected child at diagnosis. After the completion of the inventory, we learned that two of the seven parents in Group 1 were currently receiving treatment for depression. Of the remaining five, two elected to consult with an NIH psychiatrist. The consulting psychiatrist in both cases confirmed significant clinical depression. In total, approximately 13% of the total parent cohort (3 mothers and 1 father) was confirmed to have clinical depression by a physician. Using Fisher’s exact test, the BDI data were analyzed to determine if there were any significant differences in the frequency of specific depressive symptoms between Group 1 and Group 2. The results showed that the following 10 clinical symptoms were more frequently reported in Group 1 than in Group 2: pessimism ( p = 0.03) sense of failure ( p = 0.03), lack of satisfaction ( p < 0.001), sense of punishment ( p < 0.001), self-dislike ( p = 0.01), social withdrawal ( p < 0.001), indecisiveness ( p = 0.002), somatic preoccupation ( p = 0.002), and loss of libido ( p = 0.002). These items were not significantly correlated with gender, age of parent, current age of affected child, nor age of affected child at diagnosis.
DISCUSSION In the data described here, approximately 23% of the study participants were found to have positive results on a depression screening test. Approximately 13% were subsequently confirmed to have significant depression requiring medical attention. It is likely that the three parents who did not accept the psychiatric referral would also be found to be depressed by clinical evaluation. The frequency
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of confirmed clinical depression we report for this parent cohort is higher than that cited by Weissman et al. (1991) and Blazer et al. (1994) for the general population. The statistical significance of the difference is difficult to compute, because of the inexact nature of the general population frequency value. The frequency of depressive symptoms in this cohort may underestimate the true prevalence because of selection bias. That is, the parents in this sample had to be highly motivated and organized to gain access to this study. The majority of the parents were members of the Proteus Syndrome Foundation, a group that provides both emotional and instrumental support for its members. In addition, many of these parents serve as primary advocates and information sources on their children’s disorders within their local health professional systems (Proteus Syndrome Foundation, personal communication). We hypothesize that these attributes select for parents who are less likely to be depressed. As listed in Table I, the items of the BDI are derived from clinical observations and records of the attitudes and symptoms of individuals suffering from depression (Beck and Beamesderfer, 1974). In this study, the following 10 clinical features of depression were more frequently reported by the parents who had mild, mildmoderate, and moderate-severe symptom scores on the BDI: pessimism, sense of failure, lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido. It is important to note that the latter three symptoms are somatic complaints. It has been noted that individuals seeking relief from depressive symptoms in the primarycare setting often focus on somatic complaints (Katon, 1987). This presentation can delay the diagnosis of depression until the completion of medical evaluations to rule out physical reasons for the symptoms. Somatization can also lead to incorrect treatment of symptoms. Consequently, it is recommended that medical professionals consider somatic complaints not only as signs of physical ailments but also as features of depression (Katon, 1987; Kuzel, 1996). These data indicate that clinical assessments for signs of depression in parents of individuals with Proteus syndrome and other rare overgrowth conditions is warranted. Attention should be given not only to affective symptoms but also to physical complaints. Genetic counselors and other genetics professionals have a unique familiarity with rare conditions, the bereavement process, and other psychological issues common in families with genetic conditions. Thus, genetic professionals are ideally situated to assess symptoms of depression in parents of their patients with Proteus syndrome and similar conditions and to refer parents for psychotherapeutic and/or pharmacological interventions. In recent years, the treatment for depression has advanced so that over 80% of affected individuals experience significant relief from symptoms with either medication, psychotherapy, or a combination of the two modalities (Kuzel, 1996). Many affected individuals receive treatment for depression from their primarycare physicians, social workers, and psychotherapists. Studies have shown that
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primary-care providers can effectively manage mild psychiatric issues (Brown and Schulberg, 1998). The small sample size is a limitation of this study. This is an unavoidable feature of a study on parents of individuals with rare conditions and is balanced against the specificity gained by studying a carefully defined population. It is also important to note that study participants cared for children with a progressive and potentially disfiguring condition. This feature may limit the generalizabilty of these results to parents caring for children with stable or less aesthetically disfiguring disorders. Further delineation of the practical and emotional issues for parents of children with Proteus syndrome will provide additional insight into the psychosocial challenges faced by these parents. For example, since anxiety is frequently coupled with depressive symptoms (Mineka et al., 1998), additional studies should assess for both of these problems. Additional studies may highlight other psychosocial issues besides depression that require intervention. Subsequent studies may illustrate better ways to address parental concerns through genetic counseling. Finally, much is to be learned from the majority of parents who do not suffer from depression. A study of these parents may demonstrate parental coping strategies or family characteristics that predict and promote emotional adjustment. Further research on the emotional reactions of parents with children with genetic conditions may allow genetics professionals to be able to better identify those parents who require more extensive counseling interventions or referrals to mental health services. ACKNOWLEDGMENTS The authors thank the parents who participated in this study; the Proteus Syndrome Foundation (www.proteus-syndrome.org) for encouragement and support; Barbara Bowles Biesecker, M.S., for helpful comments regarding the study design and editing this manuscript; and Seth Steinberg, Ph.D., for statistical assistance. REFERENCES Allen R, Newman SP, Souhami RL (1997) Anxiety and depression in adolescent cancer: Findings in patients and parents at the time of diagnosis. Eur J Cancer 33:1250–1255. Beck AT (1978) Beck Depression Inventory. Philadelphia: Center for Cognitive Therapy. Beck AT, Beamesderfer A (1974) Assessment of depression: The depression inventory. In: Pichot P (ed) Psychological Measurements in Psychopharmacology, Vol. 7, Modern Problems in Pharmacopsychiatry. Basel, Switzerland: Karger, pp 151–169. Beck AT, Steer RA (1987) Beck Depression Inventory Manual. San Antonio, TX: Harcourt Brace Jovanovich. Beck AT, Steer RA, Garbin MG (1988) Psychometric properties of the Beck Depression Inventory: Twenty-five years of evaluation. Clin Psychol Rev 8:77–100.
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