The objective of this study is to describe the characteristics of the caregivers of patients with Parkinson's disease (PD) and to analyze the association between these characteristics and caregiver burden, perceived health and mood status, and identify their predictors. A multicenter, nationwide, observational, cross-sectional study that included 289 patient-caregiver pairs was conducted. Caregiver self-assessments were the Hospital Anxiety and Depression Scale (HADS), EuroQol (EQ), and Zarit Caregiver Burden Inventory (ZCBI). Most caregivers in the study were women aged 60 years or thereabouts. Over two thirds were gainfully employed or housewives, 75% were patients' spouses, and the majority (96.5%) had been permanently taking care of the patient for 6 +/- 5.4 years. Less than 5% of patients were in the most advanced stages of disease, and direct costs were 6,350 euros per patient per year. Caregivers had more mood disorders and worse health-related quality of life (HRQol; EQ-Tariff) than did the general population. Caregiver HADS and EuroQol scores displayed a weak correlation (r(S) = 0.01-0.28) with patient-related variables (disease duration, HY, SCOPA-Motor, SCOPA-AUT, HADS, PPRS, and CISI-PD) whereas the ZCBI correlated moderately (r(S) = 0.27-0.47). Among caregivers, the EQ-Tariff was significantly lower and the HADS-Anxiety scores significantly higher for women. ZCBI and HADS-depression, though not EuroQol and HADS-anxiety, scores significantly increased with increasing PD severity levels. Caregivers' affective status proved the most important factor influencing their burden and perceived health, whereas patient-related variables influenced caregiver burden and mood but not health status. In PD, prevalence of affective disorders among patients' caregivers is high and influences both burden and HRQoL.

Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican population. It is generally regarded as a lethal condition. Since Jarcho and Levin described it in 1938, it has been referred to as spondylocostal dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome and STD. We have prospectively characterized 27 patients with STD by detailed physical examination, pedigree analysis, thoracic CT scans, and pulmonary function tests (PFTs). Diagnoses were established using spinal radiographs and 3-D reconstructive CT scans to demonstrate fusion of the ribs at the costo-vertebral junction with a fan-like (crab-like) configuration of the thorax. Vertebral segmentation and formation defects were seen throughout the spine with a decrease in the number of vertebral bodies. Characteristic vertebral shape consisted of a decrease in antero-posterior diameter and an increase in lateral length, giving the vertebra a sickle shape. Eight out of 18 prospectively follow patients died within the first 6 months of life, a 44% mortality rate. Cause of death was respiratory insufficiency secondary to pneumonia and pulmonary restriction. This is an important finding since the vast majority of STD syndrome patients cited in the medical literature have died in the newborn and early childhood periods. Age of the remaining patients ranged from 4 months to 47 years. This represents the largest collection of patients with STD reported and it has allowed us to determine a detailed phenotype. Given 56% survival at 6 months, we show that STD is not a lethal syndrome.

Spondylothoracic dysplasia has a unique pathoanatomy of volume depletion deformity of the thorax with chest wall stiffness, resulting in thoracic insufficiency syndrome. Clinical tolerance of the restrictive lung disease in this disorder is impressive, but no clear reason has yet been identified for the clinical pulmonary health in the face of severe restrictive lung disease. Patients who survive infancy show no progression of congenital anomalies and can have a good quality of life. This disease may serve as a model of the natural history of thoracic insufficiency syndrome due to growth inhibition of the thoracic spine either as a result of congenital causes or secondary to surgical fusion early in life.