RESUMO
BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. STUDY DESIGN: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. RESULTS: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. CONCLUSIONS: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.
Assuntos
Cardiopatias Congênitas , Síndrome de Noonan , Estenose da Valva Pulmonar , Lactente , Recém-Nascido , Humanos , Gravidez , Feminino , Resultado da Gravidez , Síndrome de Noonan/complicações , Síndrome de Noonan/epidemiologia , Síndrome de Noonan/diagnóstico , Cesárea , Estudos Retrospectivos , Cardiopatias Congênitas/epidemiologia , Estenose da Valva Pulmonar/epidemiologiaRESUMO
BACKGROUND: Restless legs syndrome (RLS) is associated with an unrelenting urge to move at night, which can cause chronic sleeplessness, depression, and despondency; thus increasing risk of suicide. We aimed to determine frequency of suicidal ideation and behavior in RLS. METHODS: RLS and control participants were recruited through community and RLS Foundation advertisements. RLS diagnosis was confirmed using the Cambridge-Hopkins RLS Questionnaire and severity was assessed using the International RLS Study Group Severity Scale (IRLSS). Lifetime suicidal ideation (plan) and behavior (attempt) was assessed using the Suicidal Behavior Questionnaire-revised. The Brief Lifetime Depression Scale evaluated lifetime depression history. Forward stepwise logistic regression determined the odds of suicidal ideation or behavior. RESULTS: In this study, 192 RLS and 158 control participants were comparable for age, sex, race, and other potential demographic confounders. In general, RLS was moderate-to-severe (mean IRLSS 26.4 ± 7.5). Significantly more RLS than control participants had lifetime suicidal ideation or behavior (27.1% vs. 7.0%; p < 0.00001) or lifetime depression history (65.6%% vs. 22.8%; p < 0.00001). The odds of having a lifetime suicidal ideation or behavior was higher in those with RLS [2.80 (1.29,6.11)], even after accounting for depression and other confounders. In RLS, the odds of lifetime suicidal ideation or behavior was increased if there was lifetime depression [7.37 (2.65,20.47)] or if RLS in the past was severe or very severe [2.36 (1.03,5.40)]. CONCLUSIONS: Lifetime suicidal ideation or behavior is prevalent in RLS sufferers, and its likelihood is dependent on RLS severity and depression history.
Assuntos
Depressão , Síndrome das Pernas Inquietas/complicações , Ideação Suicida , Depressão/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Escalas de Graduação Psiquiátrica , Fatores de Risco , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVE: To determine the prevalence and associated features of demoralization in Parkinson disease (PD). METHODS: Participants with PD and controls were prospectively recruited from outpatient movement disorder clinics and the community. Demoralization was defined as scoring positively on the Diagnostic Criteria for Psychosomatic Research, Demoralization questionnaire or Kissane Demoralization Scale score ≥24. Depression was defined as Patient Health Questionnaire-9 score ≥10. Forward stepwise logistic regression was used to determine the odds of having demoralization in the overall, control, and PD cohorts. RESULTS: Demoralization occurred in 18.1% of 94 participants with PD and 8.1% of 86 control participants (p = 0.05). These 2 groups were otherwise comparable in age, sex, education, economics, race, and marital status. Although demoralization was highly associated with depression, there were individuals with one and not the other. Among participants with PD, 7 of 19 (36.8%) depressed individuals were not demoralized, and 5 of 17 (29.4%) demoralized individuals were not depressed. In the overall cohort, having PD (odds ratio 2.60, 95% confidence interval 1.00-6.80, p = 0.051) was associated with demoralization, along with younger age and not currently being married. In the PD cohort, younger age and Unified Parkinson's Disease Rating Scale, part III score (per score 1) were associated with demoralization (odds ratio 1.06, 95% confidence interval 1.01-1.12, p = 0.02). CONCLUSIONS: Demoralization is common in PD and is associated with motor dysfunction. In demoralization, there is a prominent inability to cope, making it somewhat distinct from depression. Treatment approaches are also different, making it important to identify demoralization in patients with PD.
Assuntos
Doença de Parkinson/epidemiologia , Doença de Parkinson/psicologia , Idoso , Estudos Transversais , Depressão/epidemiologia , Feminino , Humanos , Masculino , Saúde Mental , Prevalência , Estudos Prospectivos , AutoimagemRESUMO
BACKGROUND: Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood. METHODS: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and who experienced a latent period of greater than 1 year followed by an exacerbation. RESULTS: Sixteen patients were identified. The mean latent period was 16 years. Ten patients (62.5%) identified an exacerbation trigger, most commonly changes in substance use (five patients). Seven patients (43.8%) reported worsening of tics since childhood. Six patients (37.5%) had received pharmacological intervention for tics as children, and 15 patients (93.8%) as adults. Six of 15 patients (40.0%) had an effective response from those pharmacological intervention(s). DISCUSSION: Our study demonstrates that the decline in symptoms as patients age may represent temporary improvement. The latent period lasted years in our patients, different from the more rapid waxing and waning in children. A change in substance use was an important trigger. Requests for pharmacological intervention were not necessarily correlated with worsening tic severity.
RESUMO
Restless legs syndrome (RLS) is a common, chronic neurologic condition, which causes a persistent urge to move the legs in the evening that interferes with sleep. Human and animal studies have been used to study the pathophysiologic state of RLS and much has been learned about the iron and dopamine systems in relation to RLS. Human neuropathologic and imaging studies have consistently shown decreased iron in different brain regions including substantia nigra and thalamus. These same areas also demonstrate a state of relative dopamine excess. While it is not known how these changes in dopamine or iron produce the symptoms of RLS, genetic and hormone studies of RLS have identified other biologic systems or genes, such as the endogenous opioid and melanocortin systems and BTBD9 and MEIS1, that may explain some of the iron or dopamine changes in relation to RLS. This manuscript will review what is known about the pathophysiology of RLS, especially as it relates to changes in iron, dopamine, genetics, and hormonal systems.