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1.
Obes Surg ; 31(1): 101-110, 2021 Jan.
Article in English | MEDLINE | ID: mdl-32725593

ABSTRACT

PURPOSE: Sleeve gastrectomy (SG) is the most commonly performed bariatric surgical procedure worldwide. However, the impact of SG on Barrett's esophagus (BE) remains unknown. The main objective was to determine the rate of BE 5 years after SG. MATERIALS AND METHODS: Patients, operated in 2012 by SG in one center, who preoperatively and postoperatively (5 years) underwent upper gastrointestinal endoscopy (UGIE), 24-h pH monitoring, and esophageal manometry, were included. RESULTS: A total of 59 (81.4% of females) patients were included. Preoperative mean age and body mass index were 45.2 ± 11.7 years and 45.2 ± 8.1 kg/m2 respectively. Preoperative 24-h pH monitoring reported gastroesophageal reflux disease (GERD) in 18 (30.5%) patients. The mean total body weight loss at 5 years was 16.1 ± 11.2%. No significant difference was observed between preoperative and postoperative de Meester's score (20.2 ± 27.1 and 21.0 ± 21.5 respectively (p = 0.91)) nor between preoperative and postoperative number of acid reflux episodes per 24 h (65.1 ± < 40.0 and 50.3 ± 40.3 (p = 0.21)). The UGIE revealed 5 patients (8.5%) with endoscopically suspected esophageal metaplasia, without confirmed metaplasia on histologic examination. GERD was diagnosed in 32 patients (54.2%), de novo GERD in 16 (27.1%) patients and esophagitis in 16 (27.1%) patients. At 5 years, 25 patients (42.4%) reported a lack of regular medical follow-up. CONCLUSIONS: This study highlights the incidence of postoperative GERD and endoscopic lesions following SG. Even though SG is not contraindicated in case of reflux, GERD patients who undergo SG may be supervised by a close endoscopic surveillance.


Subject(s)
Barrett Esophagus , Gastroesophageal Reflux , Obesity, Morbid , Barrett Esophagus/epidemiology , Barrett Esophagus/surgery , Female , Follow-Up Studies , Gastrectomy/adverse effects , Gastroesophageal Reflux/epidemiology , Gastroesophageal Reflux/etiology , Gastroesophageal Reflux/surgery , Humans , Obesity, Morbid/surgery
2.
J Visc Surg ; 158(5): 390-394, 2021 10.
Article in English | MEDLINE | ID: mdl-32917578

ABSTRACT

BACKGROUND: Scientific societies recommend to seek cancer prior to bariatric surgery. In our tertiary referral center, we aimed to study performance of abdominal CT-scan before bariatric surgery. PATIENTS AND METHODS: We retrospectively included all patients who underwent bariatric surgery and a pre-operative abdominal CT-scan in our academic center, between January 2015 and December 2018. RESULTS: We included 521 patients (417 women and 104 men) with a mean age of 48.0±11.5 years. Mean preoperative body mass index was 44.9±7.0kg/m2. Among the 392 patients with abnormal CT-scan, mean number of anomalies per patient was of 2.2±1.2. Vast majority of anomalies (91.8%) were non-significant. Only 5 (1%) patients needed treatment prior to bariatric surgery. No factor predictive of abnormal CT-scan was found. CONCLUSION: Only few patients had severe anomaly on CT-scan before bariatric surgery. Abdominal CT-scan could not be advocated to seek cancer before bariatric surgery.


Subject(s)
Bariatric Surgery , Obesity, Morbid , Abdomen , Adult , Female , Humans , Male , Middle Aged , Obesity, Morbid/surgery , Retrospective Studies , Tomography, X-Ray Computed
3.
Diabetes Metab ; 46(6): 480-487, 2020 11.
Article in English | MEDLINE | ID: mdl-32032671

ABSTRACT

AIM: Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a master regulator of low-density lipoprotein cholesterol (LDL-C) metabolism, acting as an endogenous inhibitor of the LDL receptor. While it has been shown that bariatric surgery differentially affects plasma LDL-C levels, little is known of its effects on plasma PCSK9 concentrations. Therefore, the present study aimed to: (i) investigate the effect of sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) on plasma PCSK9 concentrations; and (ii) correlate baseline or postoperative plasma PCSK9 concentration variations with anthropometric and metabolic parameters. METHODS: Fasting plasma PCSK9 levels were measured by ELISA in morbidly obese patients before and 6 months after bariatric surgery. Patients were recruited from three prospective cohorts (in Nantes and Colombes in France, and Antwerp in Belgium). RESULTS: A total of 156 patients (34SG, 122RYGB) were included. Plasma PCSK9, LDL-C and non-high-density lipoprotein cholesterol (non-HDL-C) levels were significantly reduced after RYGB (-19.6%, -16.6% and -19.5%, respectively; P<0.0001), but not after SG. In all patients, postoperative PCSK9 change was positively correlated with fasting plasma glucose (FPG; r=0.22, P=0.007), HOMA-IR (r=0.24, P=0.005), total cholesterol (r=0.17, P=0.037) and non-HDL-C (r=0.17, P=0.038) variations, but not LDL-C. In contrast to what was observed for glucose parameters (FPG, HOMA-IR), correlation between PCSK9 and non-HDL-C changes after RYGB was independent of total weight loss. CONCLUSION: RYGB, but not SG, promotes a significant reduction in plasma PCSK9 levels, and such changes in circulating PCSK9 levels after RYGB appear to be more associated with glucose improvement than with lipid homoeostasis parameters.


Subject(s)
Dyslipidemias/blood , Gastrectomy , Gastric Bypass , Obesity, Morbid/surgery , Proprotein Convertase 9/blood , Blood Glucose/metabolism , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Cohort Studies , Female , Glycated Hemoglobin/metabolism , Humans , Male , Obesity, Morbid/blood , Prospective Studies , Treatment Outcome
4.
Obes Surg ; 30(4): 1468-1472, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32030618

ABSTRACT

BACKGROUND: Sleeve gastrectomy is the most commonly performed bariatric surgery these days but is associated with de novo reflux. OBJECTIVE: We aimed to study the influence of hypotonic lower esophageal sphincter (LES) on postoperative gastroesophageal reflux disease (GERD). METHODS: Patients with pre- and postoperative esophageal high-resolution manometry (HRM) and 24-h pH monitoring (pHM) were included retrospectively in our study. Preoperative hypotonic LES was defined by a mean residual pressure of the lower esophageal sphincter < 4 mmHg. Postoperative GERD was defined by a DeMeester's score > 14.72. We also evaluated postoperative manometric changes at the esophageal-gastric junction. RESULTS: Sixty-nine patients (54 females and 15 males) had pre- and postoperative HRM and pHM. The mean age was 45.9 ± 9.8 years. The mean body mass index (BMI) was 47.5 ± 7.5 kg/m2. Hypotonic LES concerned 21 patients (30.4%) before sleeve gastrectomy. The mean time between the two esophageal monitorings was 32.1 ± 24.1 months. The sensitivity, specificity, positive predictive value, and negative predictive value of hypotonic LES to predict GERD were 31, 70, 52, and 48% respectively. The LES minimal residual pressure was not statistically decreased after sleeve gastrectomy (p = 0.24). Only the wave speed, esophageal length, and LES length were significantly reduced after SG (p = 0.029, 3.8 × 10-7 and 0.00032). CONCLUSION: Hypotonic LES has a poor predictive value on postoperative GERD. The LES's length is significantly reduced after SG and this could be a factor explaining de novo reflux.


Subject(s)
Gastroesophageal Reflux , Laparoscopy , Obesity, Morbid , Adult , Esophageal Sphincter, Lower/surgery , Female , Gastrectomy , Gastroesophageal Reflux/etiology , Humans , Male , Manometry , Middle Aged , Obesity, Morbid/surgery , Retrospective Studies
5.
Diabetes Metab ; 41(1): 37-44, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25277526

ABSTRACT

AIM: Our study assessed the distribution of physical activity during various typical tasks of daily life in adults with type 2 diabetes (T2D), a population typified by low physical activity. METHODS: We investigated the duration and intensity of physical activity in four domains (work, leisure, transportation and domestic), and how individual determinants might influence the repartition. The long-form International Physical Activity Questionnaire (IPAQ) was administered to participants from the échantillon national témoin représentatif des personnes diabétiques (ENTRED), a study of French adults with T2D (n=724, 65% men, age 62±10y, BMI 29±5kg.m(-2), HbA1c 7.1±1.1%), and the associations between sociodemographic/clinical characteristics and categories of physical activity intensity (low, moderate or high) were examined by logistic regression. RESULTS: The median total physical activity was 2079 [Q1=893, Q3=3915]MET-min·week(-1). The main contributors to total physical activity were domestic chores, followed by leisure-time activities and transportation (median: 630, 347 and 198MET-min·week(-1), respectively). Absence of cardiovascular complications (OR=1.87, 95% CI=1.01-3.47), age<65y (OR=2.28, 95% CI=1.30-4.01) and better self-perceived health (OR=2.12, 95% CI=1.18-3.83) were associated with more physical activity. In all patient subgroups (defined by category of physical activity intensity or stratified by determinants of physical activity level), domestic chores were always the main contributor to total physical activity (P<0.0001). CONCLUSION: Domestic chores are the predominant routine whereby adults with T2D engage in physical activity. This emphasizes the vast potential for promoting voluntary leisure-time physical activity in this population.


Subject(s)
Activities of Daily Living , Diabetes Mellitus, Type 2/epidemiology , Motor Activity/physiology , Aged , Body Mass Index , Cross-Sectional Studies , Exercise , Female , France/epidemiology , Humans , Life Style , Male , Middle Aged , Quality of Life , Surveys and Questionnaires
6.
Cell Death Dis ; 4: e970, 2013 Dec 19.
Article in English | MEDLINE | ID: mdl-24357801

ABSTRACT

Even tissues capable of complete regeneration, such as bone, show an age-related reduction in their healing capacity. Here, we hypothesized that this decline is primarily due to cell non-autonomous (extrinsic) aging mediated by the systemic environment. We demonstrate that culture of mesenchymal stromal cells (MSCs) in serum from aged Sprague-Dawley rats negatively affects their survival and differentiation ability. Proteome analysis and further cellular investigations strongly suggest that serum from aged animals not only changes expression of proteins related to mitochondria, unfolded protein binding or involved in stress responses, it also significantly enhances intracellular reactive oxygen species production and leads to the accumulation of oxidatively damaged proteins. Conversely, reduction of oxidative stress levels in vitro markedly improved MSC function. These results were validated in an in vivo model of compromised bone healing, which demonstrated significant increase regeneration in aged animals following oral antioxidant administration. These observations indicate the high impact of extrinsic aging on cellular functions and the process of endogenous (bone) regeneration. Thus, addressing the cell environment by, for example, systemic antioxidant treatment is a promising approach to enhance tissue regeneration and to regain cellular function especially in elderly patients.


Subject(s)
Mesenchymal Stem Cells/cytology , Oxidative Stress/physiology , Animals , Blotting, Western , Cell Differentiation/physiology , Cell Proliferation , Cells, Cultured , Electrophoresis, Gel, Two-Dimensional , Rats , Rats, Sprague-Dawley , Reactive Oxygen Species/metabolism , X-Ray Microtomography
8.
Rev Med Interne ; 32(11): e111-3, 2011 Nov.
Article in French | MEDLINE | ID: mdl-21281993

ABSTRACT

Diabetic amyotrophy or lombosacral radiculoplexus neuropathy is a rare complication associated with early-stage diabetes. Thigh pain, quadricipital amyotrophy, proximal weakness of lower limbs and weight loss are the main symptoms of the disease. As neurological damage is related to inflammatory microvasculitis, corticosteroid therapy may be considered as the first line therapy. We report a 54-year-old patient with type 2 diabetes affected with severe diabetic amyotrophy. Following intravenous corticosteroid therapy, the patient reported a rapid pain relief and gained muscle strength.


Subject(s)
Adrenal Cortex Hormones/therapeutic use , Diabetic Neuropathies/diagnosis , Diabetic Neuropathies/drug therapy , Polyradiculopathy/diagnosis , Polyradiculopathy/drug therapy , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/drug therapy , Humans , Lumbosacral Plexus/pathology , Male , Methylprednisolone/therapeutic use , Middle Aged , Polyradiculopathy/pathology , Treatment Outcome
9.
Obes Rev ; 12(5): 366-77, 2011 May.
Article in English | MEDLINE | ID: mdl-20331508

ABSTRACT

Physical activity is a cornerstone in the medical management of obesity and could be important for weight loss following bariatric surgery. This review aims to describe the evolution of physical activity following massive weight loss induced by bariatric surgery, and to identify the relationship between physical activity and amount of weight loss. A literature search identified 20 publications (19 studies) reporting physical activity data in relation to bariatric surgery. All studies were observational. Self-assessment of physical activity was used in all the studies. Objective measures (pedometry) were used in two studies. The time frame for physical activity assessment varied: before surgery in two publications, after surgery in nine, and longitudinal pre- to post-operative evolution in nine. The latter nine publications found an increase in physical activity after bariatric surgery. In 10/13 studies where it was described, there was a positive relationship between physical activity level and amount of weight loss. In conclusion, observational evidence of self-reported physical activity suggests that physical activity increases after bariatric surgery and that physical activity is associated with surgically induced weight loss. However, these findings warrant further evaluation using objective measures of physical activity and testing in controlled trials.


Subject(s)
Bariatric Surgery , Exercise/physiology , Obesity, Morbid/surgery , Weight Loss/physiology , Body Composition/physiology , Humans , Treatment Outcome
10.
Arch Mal Coeur Vaiss ; 100(8): 615-9, 2007 Aug.
Article in French | MEDLINE | ID: mdl-17928762

ABSTRACT

BACKGROUND: International guidelines recommend to modulate the periodicity of hypertension screening according to the initial level of blood pressure (BP). The aim of our study was to evaluate other factors that could be useful to optimise the screening for hypertension. METHODS: 9777 normotensive volunteers (4151 men, 5626 women) aged 16 to 68, studied at a 10 year interval during systematic health check ups (standardised questionnaire, clinical examination, biological tests) were included. We determined the 10-year incidence of high BP (systolic BP >or=140 mmHg and/or diastolic BP >or=90 mmHg and/or anti-hypertensive treatment). The role of potential risk factors for hypertension was assessed. RESULTS: The 10 year incidence of high BP was 19.9%. It was associated with the initial level of BP (OR=2.02 and 1.81 per +10 mmHg of systolic and diastolic BP, respectively, p<0.0001). Initial age and BMI were strongly associated with the incidence of a high BP (OR=1.88 / + 10 years and 1.18 / + 1 kg/m2, p<0.0001) after adjustment for the initial systolic BP. In men, a low reported physical activity level, alcohol consumption, and current smoking were independent risk factors (Table1). [table: see text] CONCLUSION: These results suggest that the recommendations for the screening of hypertension should not be based solely on the initial level of BP.


Subject(s)
Hypertension/epidemiology , Adolescent , Adult , Age Factors , Aged , Alcohol Drinking/epidemiology , Body Mass Index , Female , France/epidemiology , Humans , Incidence , Male , Mass Screening , Middle Aged , Motor Activity , Risk Factors , Smoking/epidemiology
11.
J Neurol Neurosurg Psychiatry ; 78(7): 738-41, 2007 Jul.
Article in English | MEDLINE | ID: mdl-17287240

ABSTRACT

OBJECTIVE: To compare cognitive impairments in dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD), to discriminate between the two entities. METHODS: 10 DLB and 12 PDD consecutive patients performed a neuropsychological battery designed to assess several cognitive domains: verbal and visual memory (Delayed Matching to Sample (DMS)-48), language, gnosia, praxia and executive functions. RESULTS: DLB patients had poorer performances in orientation (p<0.05), Trail Making Test A (p<0.05) and reading of names of colours in the Stroop Test (p<0.05). Their scores were also lower in the visual object recognition memory test (DMS-48), in both immediate (p<0.05) and delayed recognition (p<0.05). No differences were observed in the other tests. CONCLUSION: Despite global similarities in cognitive performances between DLB and PDD patients, we observed important differences: in particular, DMS-48, a test of visual object recognition memory and visual storage capacity, was poorer in DLB patients.


Subject(s)
Cognition Disorders/etiology , Dementia/diagnosis , Lewy Body Disease/diagnosis , Parkinson Disease/diagnosis , Recognition, Psychology , Aged , Aged, 80 and over , Dementia/complications , Diagnosis, Differential , Female , Humans , Lewy Body Disease/complications , Male , Memory Disorders/etiology , Parkinson Disease/complications , Visual Perception
12.
Ann Dermatol Venereol ; 132(3): 243-5, 2005 Mar.
Article in French | MEDLINE | ID: mdl-15924046

ABSTRACT

INTRODUCTION: Granuloma annulare is a benign dermatosis characterized by pale or erythematous papules grouped in rings or in arch form figures. We report the observation combining a granuloma annulare and a Human Immunodeficiency Virus (HIV) infection, with regression of the granuloma annulare on initiation of treatment of the HIV infection. OBSERVATION: A 33 year-old man presented with an eruption of multiple, erythematous papules predominating on the trunk and limbs but sparing the face. Histology confirmed the diagnosis of generalized granuloma annulare. We diagnosed an HIV infection. Remission of the granuloma annulare was obtained concomitantly when immune restoration was obtained following the prescription of an antiretroviral tritherapy. DISCUSSION: Since 1985, several cases of atypical forms of granuloma annulare have been reported in HIV-infected patients. Nevertheless, the precise relationship between the two diseases is unknown. The case we report on raises the question of the relationship between granuloma annulare and immunodepression.


Subject(s)
Anti-Retroviral Agents/therapeutic use , Granuloma/drug therapy , HIV Infections/complications , HIV Infections/drug therapy , Adult , Granuloma/pathology , Humans , Male , Treatment Outcome
13.
Clin Rheumatol ; 24(2): 174-7, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15578248

ABSTRACT

Pachymeningitis is an inflammatory process that thickens the dura mater. This disease has various etiologies including infectious, neoplastic, or autoimmune diseases. We present the case of a patient who developed cranial pachymeningitis with a clinical and biological picture suggestive of a neurological form of vasculitis. A 51-year-old woman developed rhinitis, otitis media, headaches, and deterioration of her condition after a course of recombinant hepatitis B vaccine. After a booster dose of the vaccine, she developed unilateral visual loss and impairment of multiple cranial nerves. Blood analysis showed inflammation and presence of antimyeloperoxidase antineutrophil cytoplasmic antibody (MPO-ANCA). Cranial magnetic resonance imaging (MRI) showed pachymeningitis. A complete remission was obtained with immunosuppressive therapy. The initial clinical presentation and subsequent remission under immunosuppressive therapy were suggestive of a vasculitis with nervous system involvement. Though vasculitis was not proven histologically in this patient, we believe that MPO-ANCA-related autoimmunity provoked the patient's disease as already reported in similar cases. As pachymeningitis is a fibrosing process, early recognition and treatment of an autoimmune etiology, even in the absence of previous pulmonary or renal involvement, is required to prevent definitive neurological impairment.


Subject(s)
Antibodies, Antineutrophil Cytoplasmic/immunology , Meningitis/etiology , Meningitis/immunology , Vasculitis, Central Nervous System/complications , Vasculitis, Central Nervous System/immunology , Antibodies, Antineutrophil Cytoplasmic/blood , Dura Mater/pathology , Female , Humans , Magnetic Resonance Imaging , Meningitis/pathology , Middle Aged , Peroxidase/immunology , Vasculitis, Central Nervous System/pathology
15.
Water Sci Technol ; 46(6-7): 379-87, 2002.
Article in English | MEDLINE | ID: mdl-12381015

ABSTRACT

Berlin Wasserbetriebe is in need of a significant and longterm investment in the rehabilitation of is sewer system. With ratification of the European Standard EN 752 Part 5, comprehensive rules have been set out for the rehabilitation of drain and sewer systems: hydraulic performance, environmental impact and structural integrity of complete catchment areas are given equal consideration. Taking this into account, Berliner Wasserbetriebe has developed a sewer rehabilitation strategy. Economic aspects are integrated with a cost-benefit-analysis; the significance of the remaining useful life of a pipe section is examined.


Subject(s)
Facility Design and Construction , Waste Disposal, Fluid/methods , Cities , Cost-Benefit Analysis , Germany , Waste Disposal, Fluid/economics
16.
Eur Spine J ; 10(5): 396-402, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11718193

ABSTRACT

In 65 consecutive cases of trauma (n=55), pseudo-arthrosis (n=4) and metastasis (n=6), anterior reconstruction of the thoracic and lumbar spine was performed using a new minimal invasive but open access procedure. No operation had to be changed into an open procedure. The thoracolumbar junction was approached by a left-sided mini-thoracotomy (n=50), the thoracic spine by a right-sided mini-thoracotomy (n=8) and the lumbar spine by a left sided mini-retroperitoneal approach (n=7), using a new table-mounted retractor system called SynFrame (Stratec Medical, Switzerland). The anterior column was reconstructed using a variety of materials: autologous tricortical crest (n=11), autologous spongiosa (n=12), allografts (n=4) and cages (n=38). The mean overall operating time was 170 min (range 90-295 min); the time of surgery varied, depending on the spine pathology and the magnitude of the intervention in the anterior part of the spine. Mean overall blood loss was 912 ml, and only 7 out of the 65 patients needed blood transfusions. There were neither intra- nor postoperative complications related to the minimal access in particular, nor visceral/vascular complications. No intercostal neuralgia, no post-thoracotomy pain syndromes, no superficial or deep wound infections and no deep venous thromboses occurred. Four cases of pseudo-obstruction were treated conservatively. In this study, we describe the new minimal access technology to the anterior part of the thoracal and lumbar spine on the basis of 65 cases completed within 1 year. This open, but minimal invasive, access technology offers, in our view, additional advantages to the "pure" endoscopic procedures of spinal surgery.


Subject(s)
Lumbar Vertebrae/surgery , Minimally Invasive Surgical Procedures/instrumentation , Orthopedic Equipment , Orthopedic Procedures , Thoracic Vertebrae/surgery , Adolescent , Adult , Aged , Equipment Design , Female , Humans , Male , Middle Aged , Orthopedic Fixation Devices , Prospective Studies , Pseudarthrosis/surgery , Spinal Injuries/surgery , Spinal Neoplasms/secondary , Spinal Neoplasms/surgery
17.
ASDC J Dent Child ; 66(2): 120-6, 85, 1999.
Article in English | MEDLINE | ID: mdl-10431622

ABSTRACT

This study attempts to gather information concerning the dental experiences, beliefs, and parenting practices of Native Americans. Five Native American women were trained to conduct interviews in their own language. After pilot testing, seventeen questions were asked. Sixty-two interviews were taperecorded and transcribed. Content analysis was performed on the transcriptions. Results indicate maternal and caretaker upset and displeasure with the dental experiences of adults and children. Fear and pain were prominent. Parenting practices indicate children are expected to clean their own teeth at about a year of age and parental awareness of risks associated with sleeping with a bottle. About half of the mothers and caretakers who used a bottle as a pacifier report engaging in one or more protective activities such as removing the bottle when the child falls asleep. Mothers and caretakers with greater parenting experience are likelier to be aware of these protective activities. In conclusion, results of this study highlight the importance of providing positive dental experiences for mothers and caretakers and the need to be aware of actual parenting practices before making recommendations or counseling mothers or caretakers.


Subject(s)
Bottle Feeding/adverse effects , Dental Care/psychology , Dental Caries/ethnology , Indians, North American , Parenting/ethnology , Adult , Caregivers , Child, Preschool , Dental Care for Children/psychology , Dental Caries/etiology , Dental Caries/prevention & control , Female , Humans , Infant , Interviews as Topic , Montana , Pregnancy , Surveys and Questionnaires
19.
Am J Med Genet ; 74(4): 398-411, 1997 Jul 25.
Article in English | MEDLINE | ID: mdl-9259376

ABSTRACT

Several studies have suggested that the genetic liability for autism may be expressed in non-autistic relatives of autistic probands, in behavioral characteristics that are milder but qualitatively similar to the defining features of autism. We employ a variety of direct assessment approaches to examine both personality and language in parents ascertained through having two autistic children (multiple-incidence autism parents) and parents of Down syndrome probands. Multiple-incidence autism parents had higher rates of particular personality characteristics (rigidity, aloofness, hypersensitivity to criticism, and anxiousness), speech and pragmatic language deficits, and more limited friendships than parents in the comparison group. The implications of these findings for future genetic studies of autism are discussed.


Subject(s)
Autistic Disorder/genetics , Language , Parents/psychology , Personality/genetics , Adolescent , Adult , Autistic Disorder/epidemiology , Child , Child, Preschool , Down Syndrome/genetics , Female , Humans , Iowa/epidemiology , Male , Personality Tests , Socioeconomic Factors
20.
Am J Psychiatry ; 154(2): 185-90, 1997 Feb.
Article in English | MEDLINE | ID: mdl-9016266

ABSTRACT

OBJECTIVE: Studies of families ascertained through a single autistic proband suggest that the genetic liability for autism may be expressed in nonautistic relatives in a phenotype that is milder but qualitatively similar to the defining features of autism. The objective of this study was to examine behaviors that may define this broader phenotype in relatives ascertained through two autistic siblings. METHOD: The authors used a semistructured family history interview to compare the rates of social and communication deficits and stereotyped behaviors in relatives ascertained through two autistic siblings (families with multiple-incidence autism; 25 families) with the rates in relatives of Down syndrome probands (30 families). RESULTS: Higher rates of social and communication deficits and stereotyped behaviors were found in the relatives in the families with multiple-incidence autism. CONCLUSIONS: These data suggest that further studies should be undertaken to delineate the boundaries of the broader autism phenotype and that this broader phenotype should be included in some future genetic analyses of this disorder.


Subject(s)
Autistic Disorder/genetics , Family , Adolescent , Adult , Autistic Disorder/diagnosis , Child , Child, Preschool , Communication Disorders/diagnosis , Communication Disorders/genetics , Down Syndrome/diagnosis , Down Syndrome/genetics , Female , Humans , Logistic Models , Male , Multivariate Analysis , Phenotype , Psychiatric Status Rating Scales , Sex Factors , Socialization , Stereotyped Behavior
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