Patterns of Restricted and Repetitive Behaviors in Autism Spectrum Disorders: A Cross-Sectional Video Recording Study. Preliminary Report.

BACKGROUND: Several instruments have been proposed to investigate restricted, repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD). Systematic video observations may overcome questionnaire and interview limitations to investigate RRBs. This study aimed to analyze stereotypic patterns through video recordings and to determine the correlation between the number and appearance of RRBs to ASD severity. METHODS: Twenty health professionals wearing a body cam recorded 780 specific RRBs during everyday activities of 67 individuals with ASD (mean age: 14.2 ± 3.72 years) for three months. Each stereotypy was classified according to its complexity pattern (i.e., simple or complex) based on body parts and sensory channels involved. RESULTS: The RRBs spectrum for each subject ranged from one to 33 different patterns (mean: 11.6 ± 6.82). Individuals with a lower number of stereotypies shown a lower ASD severity compared to subjects with a higher number of stereotypies (p = 0.044). No significant differences were observed between individuals exhibiting simple (n = 40) and complex patterns (n = 27) of stereotypies on ASD severity, age, sex, and the number of stereotypes. CONCLUSIONS: This study represents the first attempt to systematically document expression patterns of RRBs with a data-driven approach. This may provide a better understanding of the pathophysiology and management of RRBs.

Increased insulin-stimulated endothelin-1 release is a distinct vascular phenotype distinguishing Cushing's disease from metabolic syndrome.

OBJECTIVE: Although much is known about the anti-inflammatory effects of an acute corticosteroid therapy, little is known about the effects on chronic hypercortisolism on endothelial dysfunction and proinflammatory alterations in patients with Cushing's disease (CD). PATIENTS AND METHODS: We studied 9 patients with CD, 10 patients with metabolic syndrome and 27 normal controls. The tests consisted of an intravenous bolus of 0.1 U/kg insulin combined with a euglycaemic clamp technique with an arterialized forearm and assessment of the training parameters deep-venous balance of forearm glucose uptake (as an index of insulin sensitivity); NO(x) (nitric oxide end-products), c-GMP (second messenger of nitric oxide) and endothelin-1 release, as indices of endothelial function and proinflammatory systemic markers. RESULTS: Forearm glucose uptake incremental area was significantly lower in Cushing's disease and in the metabolic syndrome than in controls, suggesting a state of severe insulin resistance. Compared to controls and to the metabolic syndrome, basal and insulin-stimulated NO(x) release incremental areas were significantly reduced in Cushing's disease, while forearm c-GMP release was similarly decreased in CD and metabolic syndrome. By contrast, endothelin-1 incremental areas after insulin bolus were significantly higher in CD than in controls and the metabolic syndrome, in the presence of increased TNF-alpha, IL-6 and CRP levels. Forearm glucose uptake incremental area significantly correlated with NO(x) incremental area, forearm c-GMP release incremental area, TNF-alpha levels and ET-1 incremental area. CONCLUSIONS: In patients with CD, supraphysiological insulin levels are not able to overcome the insulin resistance due to chronic hypercortisolism. Furthermore, an increased proatherogenic risk profile is characterized by decreased nitric oxide synthesis and activity, enhanced endothelin-1 levels and increased proinflammatory markers.

Non-functioning pituitary adenoma database: a useful resource to improve the clinical management of pituitary tumors.

OBJECTIVE: The long-term outcome of non-functioning pituitary adenoma (NFPA) patients is not clearly established, probably due to the low annual incidence and prolonged natural history of these rare tumors. The aim of this study was to evaluate clinical data at presentation and long-term post-surgery and radiotherapy outcome in a cohort of patients with NFPA. DESIGN AND METHODS: A computerized database was developed using Access 2000 software (Microsoft Corporation, 1999). Retrospective registration of 295 NFPA patients was performed in seven Endocrinological Centers of North West Italy. Data were analyzed by STATA software. RESULTS: The main presenting symptoms were visual defects (67.8%) and headache (41.4%) and the most frequent pituitary deficit was hypogonadism (43.3%), since almost all tumors were macroadenomas (96.5%). Surgery was the first choice treatment (98% of patients) and total debulking was achieved in 35.5%. Radiotherapy was performed as adjuvant therapy after surgery in 41% of patients. At the follow-up, recurrence occurred in 19.2% of patients without post-surgical residual tumor after 7.5 +/- 2.6 years, regrowth in 58.4% of patients with post-surgical remnant after 5.3 +/- 4.0 years and residue enlargement in 18.4% of patients post-surgically treated with radiotherapy after 8.1 +/- 7.3 years. CONCLUSIONS: Our database indicates that the goal of a definitive surgical cure has been achieved during the last decade in a low percentage of patients with NFPA. This tumor database may help to reduce the delay between symptom onset and diagnosis, to assess prognostic parameters for the follow-up of patients with different risk of recurrence and to define the efficacy and safety of different treatments and their association with mortality/morbidity.

Presurgical treatment with somatostatin analogs in patients with acromegaly: effects on the remission and complication rates.

OBJECT: The question of whether preoperative therapy with somatostatin analogs can improve surgical outcome in acromegaly has not been definitively answered. In this paper, the authors report the effects of preoperative treatment with somatostatin analogs in a large sample of patients with acromegaly. METHODS: Between 1990 and 2003, 399 consecutive patients with acromegaly underwent surgery at the Istituto Scientifico San Raffaele. Thirty-three patients who had previously undergone surgery or radiation treatment, 48 patients treated with somatostatin analogs for fewer than 3 months, and patients who had stopped therapy for too long a time before surgery were excluded from the study. One hundred forty-three patients who had received somatostatin analogs prior to surgery (Group 1) were randomly matched to 143 patients who had never been treated with somatostatin analogs (Group 2). Matching criteria were tumor size and invasiveness into the cavernous sinus. Before surgery, Group 1 patients showed reduction of growth hormone levels to less than 50% of baseline in 64% of cases, but insulin-like growth factor-I was normalized in only 19.5%. Surgical remission occurred in 81 Group 1 patients (56.6%) and in 91 Group 2 patients (63.6%; p = 0.28). No significant difference in the remission rate was observed when cases were analyzed according to tumor size or invasiveness. Logistic regression analysis confirmed that pretreatment with somatostatin analogs was not associated with surgical outcome. Surgical morbidity was mild and similar in Group 1 and Group 2 patients (7 and 5.6%, respectively; p = 0.81). Surgical remission and complication rates in patients with acromegaly who received treatment with somatostatin analogs prior to surgery were not significantly different from those of matched patients who did not receive these agents. CONCLUSIONS: At present, the routine use of presurgical therapy with somatostatin analogs for patients with acromegaly cannot be recommended.