The illness experience of youth with lupus/mixed connective tissue disease: a mixed methods analysis of patient and parent perspectives.

OBJECTIVE: We aimed to develop a model of the illness experience for youth with systemic lupus erythematosus (SLE)/mixed connective tissue disease (MCTD). METHODS: We conducted 32 semi-structured interviews with 16 outpatient youth with SLE/MCTD, age 11 to 22 years, and their parents. We qualitatively defined key features of illness for families and distinguished profiles of youth adapting well vs poorly to SLE/MCTD. We then related these profiles to features of illness, patient-level attributes and outcomes. RESULTS: Experiences with SLE/MCTD grouped into five themes: managing disease, limitations, stigma, illness uncertainty and psychological coping. Youth adapting well experienced minimal challenges in these areas. Youth adapting poorly (4/16) experienced significant challenges in >1 thematic area, and were older with lower socioeconomic status, quality of life and psychosocial functioning, and increased disease-related morbidity. They also described suboptimal treatment adherence, healthcare utilization and transition to adult care. These findings support a dynamic model in which illness adaptation and outcomes are shaped by patient characteristics and five central illness-related challenges. CONCLUSION: Further testing of our model of illness experience may help guide comprehensive and personalized care of youth with SLE/MCTD, with targeted supports for youth at risk for negative adaptation to illness and poor outcomes.

Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: a qualitative study of youth and parent perspectives.

BACKGROUND: Untreated mental health problems may result in poor outcomes for youth with systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD). We investigated perceptions, barriers and facilitators for mental healthcare of these youth. METHODS: We conducted 32 semi-structured interviews with 16 outpatient youth with SLE/MCTD, ages 11-22 years, and their parents. We used purposive sampling to deliberately obtain the experiences of youth screened during a previous study for depression and anxiety with the Patient Health Questionnaire 9 and the Screen for Childhood Anxiety and Related Disorders, respectively. We recruited 6 youth with previous positive screens and 10 with negative screens. We assessed interim mental health history, and qualitatively examined perceptions, barriers and facilitators for mental healthcare. RESULTS: Youth with a mental health history increased from 6 (38%) at initial screening to 9 (56%) at interview (mean follow-up = 2.1 years). Youth receiving mental health treatment increased from 33 to 67%. Youth and parents identified rheumatologists as primary physicians and found mental health screening in rheumatology acceptable. Barriers to mental healthcare included: stigma; fear; uncertainty about getting help; parental emotional burden; minimization by doctors; and limited mental healthcare access. Facilitators included: strong clinician relationships; clinician initiative, sincerity and normalization in discussing mental health; and increased patient/family awareness of mental health issues in SLE/MCTD. CONCLUSION: Youth with SLE/MCTD and their parents perceive pediatric rheumatologists as a preferred source for mental health screening, guidance and referral. Interventions addressing barriers and enhancing facilitators may improve mental healthcare for youth with SLE/MCTD.

Identifying Differences in Risk Factors for Depression and Anxiety in Pediatric Chronic Disease: A Matched Cross-Sectional Study of Youth with Lupus/Mixed Connective Tissue Disease and Their Peers with Diabetes.

OBJECTIVE: To investigate differences in risk factors for depression and anxiety, such as central nervous system involvement in systemic lupus erythematosus (SLE)/mixed connective tissue disease (MCTD), by comparing youth with SLE/MCTD to peers with type 1 diabetes mellitus (T1D). STUDY DESIGN: We conducted a cross-sectional study of 50 outpatient pairs, ages 8 years and above, matching subjects with SLE/MCTD and T1D by sex and age group. We screened for depression, suicidal ideation, and anxiety using the Patient Health Questionnaire-9 and the Screen for Childhood Anxiety Related Emotional Disorders, respectively. We collected parent-reported mental health treatment data. We compared prevalence and treatment rates between subjects with SLE/MCTD and T1D, and identified disease-specific risk factors using logistic regression. RESULTS: Depression symptoms were present in 23%, suicidal ideation in 15%, and anxiety in 27% of participants. Compared with subjects with T1D, subjects with SLE/MCTD had lower adjusted rates of depression and suicidal ideation, yet poorer rates of mental health treatment (24% vs 53%). Non-White race/ethnicity and longer disease duration were independent risk factors for depression and suicidal ideation. Depression was associated with poor disease control in both groups, and anxiety with insulin pump use in subjects with T1D. CONCLUSION: Depression and anxiety are high and undertreated in youth with SLE/MCTD and T1D. Focusing on risk factors such as race/ethnicity and disease duration may improve their mental health care. Further study of central nervous system and other disease-related factors may identify targets for intervention.

Depression and anxiety and their association with healthcare utilization in pediatric lupus and mixed connective tissue disease patients: a cross-sectional study.

BACKGROUND: Depression and anxiety adversely affects outcomes in systemic lupus erythematosus (SLE) and healthcare utilization is high for pediatric SLE. We aimed to characterize the prevalence of depression and anxiety in pediatric SLE, and their association with healthcare utilization. METHODS: We conducted a cross-sectional analysis of pediatric SLE and mixed connective tissue disease (MCTD) subjects and healthy controls aged 8 years and above. We used the Patient Health Questionnaire 9 (PHQ-9) and the Screen for Childhood Anxiety Related Disorders (SCARED) to identify depression, suicidal ideation and anxiety symptoms, respectively. We compared symptom prevalence in SLE/MCTD and healthy subjects using logistic regression. For SLE/MCTD subjects, we calculated the rate of annual outpatient visits [rheumatology/nephrology, primary care provider (PCP) and emergency department], hospitalizations and rheumatology/nephrology telephone consultations in the preceding year. We compared these outcomes in those with and without depression and anxiety using negative binomial regression. RESULTS: We identified depression symptoms in 10 (20%) SLE/MCTD and 4 (8%) healthy subjects, representing a trend towards increased prevalence in unadjusted analysis (OR = 2.9, 95% CI 0.8-9.9, p = 0.09). Adjusted analysis did not show a significant difference; however, non-white race was a statistically significant independent risk factor for depression symptoms compared to white race (OR = 5.4, 95% CI 1.1-27.2, p = 0.04). We identified anxiety symptoms in 11 (22%) SLE/MCTD and 13 (26%) healthy subjects, which was not statistically different. Suicidal ideation was present in 7 (14%) SLE/MCTD and 2 (4%) healthy subjects, which was a statistically significant difference (OR = 5.4, 95% CI 1.02-28.3, p = 0.047). Of the 34% of SLE/MCTD subjects with any symptoms, only 24% had previous mental health care. Those with depression symptoms had a statistically significant lower rate of visits to the PCP (IRR = 0.38, 95% CI 0.19-0.76, p < 0.001). Anxiety symptoms were not associated with the healthcare utilization outcomes. CONCLUSIONS: Depression and anxiety symptoms were prevalent, and suicidal ideation significantly more common in SLE/MCTD than in healthy subjects. Non-white race was an independent risk factor for depression. Despite prevalent symptoms, there were poor rates of prior mental health treatment, and less frequent PCP visits among those with depression symptoms. Further investigation of barriers to mental health care and interventional strategies for symptomatic youth with SLE/MCTD is needed.

Depression and seizures as the main neuropsychiatric manifestation of mixed connective tissue disorder.

A 38 years female presented with arthralgia, dyspnoea, progressive proximal muscle weakness, seizures, weight loss, dysphagia, alopecia, and dryness of the eyes and mouth with tightening of the skin. Psychiatric evaluation revealed major depression. She had oral ulcers, tightening of the skin of the hands with restricted mouth opening, and proximal muscle weakness. Mixed connective tissue disorder (MCTD) with predominant polymyositis and neuropsychiatric manifestations was diagnosed as the patient had anti-RNP positive with significantly raised muscle enzymes. This case is unique because major depression in MCTD is rarely documented, severe polymyositis is a rarity and ANA was negative but characteristic anti-RNP antibody was positive.

Neuropsychological assessment in mixed connective tissue disease: comparison with systemic lupus erythematosus.

OBJECTIVE: The aims of the study were to assess cognitive functions (CF) in patients with mixed connective tissue disease (MCTD) and to compare MCTD patients with systemic lupus erythematosus patients with and without neuropsychiatric manifestations (NP-SLE and non-NP-SLE, respectively) in terms of CF. METHODS: Neuropsychological examination was performed in 141 patients: 30 with MCTD (24 women, 6 men), mean age: 48.07 years, 37 with non-NP-SLE (36 women, 1 man), mean age: 40.76 years and 74 with NP-SLE (68 women, 6 men), mean age: 41.97 years. Neuropsychological tests and structured interview were used. Emotional state was assessed by Hospital Anxiety and Depression Scale and clinical review. RESULTS: We observed cognitive impairment in six MCTD patients (20%); in one (3%) the impairment was severe. MCTD patients achieved significantly higher results in seven out of 11 tests compared with patients with NP-SLE. MCTD and non-NP-SLE patients did not differ significantly. The differences were irrespective of premorbid IQ, education, disease duration and steroid treatment. CONCLUSIONS: In the majority of MCTD patients, CF were not impaired and severe impairment was unusual. Cognitive functioning was most disturbed in NP-SLE. The cognitive deficits observed in connective tissue diseases can be connected with nervous system involvement.

Treatment of mixed connective tissue disease.

Mixed connective tissue disease (MCTD) is believed to be incurable and seems to have a variable prognosis. Some patients have a mild self-limited disease, whereas others develop major organ involvement that requires aggressive treatment. Because no controlled clinical trials have been performed to guide therapy in MCTD, treatment strategies must rely largely upon the conventional therapies that are used for similar problems in other rheumatic conditions (systemic lupus erythematosus, scleroderma, polymyositis). Given the heterogeneous clinical course of MCTD, therapy should be individualized to address the specific organ involved and the severity of underlying disease activity. Corticosteroids, antimalarials, methotrexate, cytotoxics (most often cyclophosphamide), and vasodilators have been used in the treatment of MCTD with varying degrees of success.

Collagen vascular disease: can behavior therapy help?

This study examined the efficacy of a simple autogenic and biofeedback treatment package in the management of Raynaud's Phenomenon secondary to diagnosed collagen vascular disease. The patient, diagnosed as suffering from mixed connective tissue disease, had an average of 6.3 vasospastic attacks per day during a 2 week baseline period. The frequency of daily attacks dropped to 4.2 after 10 weeks and 2.5 attacks after 1 yr of training. In addition, the patient displayed a gradual improvement in the ability to maintain digital skin temperature in the presence of ambient cold stress.

Neuropsychiatric problems in mixed connective tissue disease.

A group of 20 patients with mixed connective tissue disease, followed for up to five years, was found to have a 55 per cent incidence of neuropsychiatric problems. An aseptic meningitis-like syndrome was the most common presentation and was rapidly responsive to corticosteroid therapy. Other findings were psychosis, convulsions, peripheral neuropathy, trigeminal neuropathy and cerebellar ataxia. An abnormal cerebrospinal fluid was found in five patients; mild pleocytosis, an increased protein content and a first phase colloidal gold curve were the main abnormalities. These neuropsychiatric problems have not been a cause of mortality in this group of patients with mixed connective tissue disease.