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PubMed1998

Open versus arthroscopic decompression for subacromial impingement. A comprehensive review of the literature from the last 25 years.

The operative management (open versus arthroscopic) of subacromial impingement was investigated through a search of the English-language literature from 1970 to 1996. Thirty-four clinical studies comprising 1,935 patients met the following selection criteria: a study published in a peer reviewed journal, a valid materials and methods section (describing age, gender, number of subjects, follow-up period, treatment modality, and impingement stage), and acromioplasty without rotator cuff repair. Six hundred and ninety-eight patients had an open decompression (OD) and 1,237 had an arthroscopic subacromial decompression (ASD) for Stage II and III impingement. When possible, only Stage II patients were reviewed. A few studies combined Stage II and III patients in their results; thus, the patients were placed into two groups (OD and ASD) composed of four categories: OD of Stage II impingement (494 patients), OD of Stage II and III impingement (204 patients), ASD of Stage II impingement (727 patients), and ASD of Stage II and III impingement (510 patients). The average duration of symptoms before surgery ranged from 6 months to 43 months in the OD group and 6 months to 61 months in the ASD group. The average age was 41.8 and 42.1 years, clinical follow-up 6 months to 62 months and 12 months to 41 months in the OD and ASD groups, respectively. The objective success rates were 83.3% versus 81.4% and the subjective success rates were 90.0% versus 89.3% for OD versus ASD, respectively. Return to work ranged from 43% to 100% in the OD group and 74% to 100% in the ASD group. Based on our review, the outcome from ASD is similar to OD. For persistent stage II primary impingement, we recommend starting with ASD and reserve OD for surgical failures. ASD allows earlier rehabilitation than OD because complete detachment of the deltoid is not performed, yet ASD is technically more demanding and has a long learning curve.

Acromion↗
PubMed2006

Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal.

The present study extends our previous work on characterizing the profile of social behavior abnormalities in boys with Fragile X (FraX) and autism spectrum disorder (ASD) using clinically oriented behavioral rating scales and standardized instruments. The goal was to further distinguish behavioral parameters contributing to the diagnostic classification of FraX + ASD. The study design included two cohorts of boys with FraX (3-8 years), a larger main cohort for cross-sectional analyses (n = 56, 24 with ASD), and a longitudinal subset (n = 30, 11 with ASD) of the main cohort with up to 3 yearly observations. The focus was on the relative contribution of delayed adaptive socialization and social withdrawal, including item components of their corresponding rating instruments, to the diagnosis of ASD in boys with FraX. Using a combination of regression analyses, we demonstrated that: (1) as delayed socialization, social withdrawal is also a correlate of FraX + ASD; (2) items of social withdrawal scales representing avoidance were the main predictors of ASD status, particularly in older boys; (3) adaptive socialization skills reflecting rules of social behavior and recognition and labeling of emotions, linked to verbal reasoning abilities, were selectively associated with FraX + ASD; (4) adaptive socialization is the primary determinant over time of ASD status in boys with FraX; and (5) integrated adaptive socialization-social withdrawal models allow the identification of distinctive FraX + ASD subgroups. Altogether, our findings suggest that two distinct but interrelated social behavior abnormalities, one linked to impaired cognitive processes (delayed socialization) and the second one to disturbance in limbic circuits (avoidance), play a role in the development of ASD in boys with FraX.

Adaptation, Psychological↗
PubMed1994

Influence of dietary levels of protein and sulfur amino acids on the fate of methylmercury in mice.

We previously reported that the fate of methylmercury (MeHg) in mice was affected by dietary protein levels. To study the mechanism of this alteration, we investigated the effect of sulfur amino acid supplement for a lowered protein diet on the fate of MeHg. C57BL/6N male mice were fed on a 24.8% protein diet (normal protein diet, NPD), a 7.5% protein diet (low protein diet, LPD), or LPD supplemented by methionine and cystine so as maintain the normal levels (amino acid supplemented diet, ASD) for 5 days. NPD-fed mice were used as controls. The mice were orally administered MeHg chloride (20 mumol/kg), and were examined after 24 h distribution and excretion of Hg. The Hg level in brain increased with LPD feeding and was further enhanced by ASD feeding. The hepatic Hg level increased only with ASD feeding. Although Hg levels in kidney, blood and plasma did not change with LPD feeding, these decreased with ASD feeding. The urinary Hg level that decreased with LPD feeding was recovered and exceeded by far the control levels with ASD feeding. When mice were intravenously injected with MeHg-bovine serum albumin, the Hg uptake rate in the brain increased in LPD-fed mice and was further enhanced in ASD-fed mice. The brain uptake of intravenously injected L-[14C]phenylalanine was also accelerated with LPD or ASD feeding, which indicated that LPD or ASD feeding increased activity of neutral amino acid transport in the brain. This would cause increased Hg uptake in the brain, since MeHg reaches the brain through this transport system. Hg ratio in plasma low molecular weight fraction increased in ASD-fed mice, but not in LPD-fed mice. This might contribute to the further enhanced Hg uptake in the brain with ASD feeding. Analysis of thiol compounds in plasma and urine revealed increased levels with ASD feeding. The present results suggest that insufficiency of sulfur amino acids in LPD is one reason for the alteration in the fate of MeHg induced by LPD feeding. It is also suggested that the change in neutral amino acid transport caused by LPD feeding is involved in the alteration in the fate of MeHg.

Animals↗
PubMed2003

Peritraumatic and persistent panic attacks in acute stress disorder.

This study examined the prevalence of peritraumatic and persistent panic symptoms following trauma. Survivors of civilian trauma (n=30) with either acute stress disorder (ASD) or no acute stress disorder (non-ASD) were administered the Panic Module of the Structured Clinical Interview for DSM-IV (SCID). Participants also completed the Impact of Event Scale, Acute Stress Disorder Scale, Beck Depression Inventory, Beck Anxiety Inventory, and the Anxiety Sensitivity Index. Panic attacks were experienced by 77% of participants during their trauma, and 47% reported recurrent panic attacks post-trauma. ASD participants demonstrated more panic symptoms during and after their trauma than non-ASD participants. Posttraumatic panic was most strongly associated with anxiety sensitivity. These findings are discussed in terms of cognitive factors that may mediate posttrauma panic and treatment implications for managing posttraumatic anxiety. There is increasing evidence that panic attacks play a role in psychopathological response to trauma. A significant proportion of people with panic disorder report a history of trauma (). Moreover, two-thirds of trauma survivors report panic attacks within the previous 2 weeks (). There is also evidence that people with posttraumatic stress disorder (PTSD) display elevated levels of anxiety sensitivity (). Recent attention has focused on acute panic reactions because of proposals that panic during trauma may condition trauma-related cues to subsequent panic (). There is evidence that panic attacks occur in 53-90% of trauma survivors during the traumatic experience (). Further, people with acute stress disorder (ASD) are more likely to report peritraumatic panic attacks than non-ASD individuals. ASD is a useful framework in which to investigate the role of panic in posttraumatic stress because ASD describes acute responses to trauma that are strongly predictive of chronic PTSD (). This study investigated the relationship between peritraumatic panic and ongoing panic attacks following trauma. Specifically, we indexed panic attacks during trauma and subsequent to trauma in trauma survivors with and without ASD. We also indexed the extent to which distorted interpretations about somatic sensations may be associated with panic attacks following trauma. We considered that the strong evidence that maladaptive appraisals of somatic sensations mediate panic () is directly relevant to posttraumatic panic. We hypothesized that ASD participants would report more peritraumatic and persistent panic than non-ASD participants, and that this panic would be associated with dysfunctional interpretations about somatic stimuli.

Accidents, Traffic↗
PubMed2006

Eisenmenger syndrome and atrial septal defect: nature or nurture?

BACKGROUND: It has long been debated whether patients with atrial septal defect (ASD) Eisenmenger syndrome have idiopathic pulmonary arterial hypertension with an incidental ASD or severe pulmonary hypertension on the basis of their ASD shunt magnitude alone. HYPOTHESIS: It was hypothesized that if ASD Eisenmenger patients had idiopathic pulmonary arterial hypertension with an incidental ASD, a mutation in the bone morphogenetic protein receptor-2 (BMPR2) would be found in some of these patients. PATIENTS AND METHODS: All adult patients with ASD Eisenmenger syndrome were identified from the databases of two adult congenital cardiac units, and were matched to a control group with similar types of ASDs and no pulmonary hypertension. Gene coding for BMPR2 was examined for mutation using denaturing high-performance liquid chromatography of the entire coding sequence. RESULTS: Eighteen adult patients with ASD Eisenmenger syndrome and 18 control patients were identified. ASD Eisenmenger patients had significantly larger ASDs than the control patients (3.7+/-1.2 cm versus 1.9+/-0.7 cm, P<0.01). A mutation in BMPR2 was not detected in either group. CONCLUSION: ASD Eisenmenger syndrome may occur without BMPR2 mutation. Whether shunt magnitude alone or in combination with yet another genetic mutation is responsible for the development of pulmonary hypertension in these patients remains to be determined.

Adult↗
PubMed1991

Optimum position for an anti-siphon device in a cerebrospinal fluid shunt system.

The effects on shunt flow from the position of an antisiphon device (ASD) and from changes in posture in hydrocephalic patients were examined. Fifty patients with hydrocephalus (including 36 with normal pressure hydrocephalus) were investigated, using quantitative radionuclide shuntography (99mtechnetium-pertechnetate) in the supine, sitting, and standing positions. The types of shunt valve used were as follows: Mishler dual chamber low pressure without ASD (16 cases), with ASD 40 cm below the level of the foramen of Monro (three cases), and with ASD 10 cm below the level of the foramen of Monro (12 cases); low pressure with integral ASD (14 cases); and medium pressure with integral ASD (five cases). In patients with a low pressure valve without ASD, shunt flow was least in the supine position (0.0011 ml/min) but increased significantly in the sitting position (0.4381 ml/min, P less than 0.001) because of the siphon effect. Conversely, in patients with a low pressure valve with integral ASD, shunt flow was maximal in the supine position (0.1056 ml/min) and decreased significantly in the sitting position (0.0017 ml/min, P less than 0.001), indicating overfunction of the ASD. Intracranial pressure (ICP) in the supine position increased significantly compared with patients with a low pressure valve without ASD (93.6 and 20.7 mm H2O, respectively, P less than 0.01). Intermediate values for shunt flow in the supine and sitting positions (0.0279 and 0.0896 ml/min, respectively) and for ICP (55.8 mm H2O) were obtained with patients with a low pressure valve with the ASD 10 cm below the level of the foramen of Monro (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMedDate not supplied

Who develops acute stress disorder after accidental injuries?

BACKGROUND: Acute stress disorder (ASD) is still a much discussed diagnosis, and research on predictors of ASD is sparse. The aim of this study was to assess the prevalence of ASD in a random sample of accident victims and to investigate the associations between different independent variables and ASD symptomatology with the objective to find a regression model best explaining the variance in ASD symptom level. METHODS: We collected a randomized sample of hospitalized accident victims (n = 323). ASD was assessed using the Peritraumatic Dissociative Experiences Questionnaire and the Clinician-Administered Posttraumatic Stress Disorder Scale. Correlations and multiple regression analyses were computed with four groups of variables. This yielded the variables entered into a final multiple regression analysis. RESULTS: Thirteen patients (4.0%) met all criteria for a diagnosis of ASD. Thirty-two patients (9.9%) met the criteria for a diagnosis of subsyndromal ASD. Thirty-eight percent of the variance in ASD symptom level was explained with a regression model including stay at the intensive care unit, preexisting psychiatric disorder, sense of coherence, sense of death threat, appraisal of accident severity, preventability of the accident by others, pain and appraisal of coping ability regarding physical recovery. CONCLUSIONS: This study furthers the discussion about the requirements for the ASD diagnosis. It also points to the importance of not only assessing objective accident-related variables in the aftermath of an accident but also of giving more consideration to the subjective experience and appraisal of the accident in the prevention of ASD.

Acute Disease↗
PubMed1989

Transcatheter closure of atrial septal defects. Experimental studies.

Recent experience with the spring-loaded patent ductus arteriosus (PDA) occluder has demonstrated several advantages of this device in the closure of intracardiac defects compared with previously described techniques. Pathologic and animal model studies were performed to identify which atrial septal defects (ASDs) might be suitable for device closure and to test a new septal closure double umbrella. Fifty specimens from the Cardiac Registry with unrepaired ASD secunda (2 degrees) were analyzed. Mean ASD size was 8 x 10 mm (range, 3 x 4 to 30 x 30 mm); 80% (n = 40) of ASDs were judged closable with the new device. ASD closure was attempted in four lambs with the Rashkind (hooked single umbrella) ASD occluder. One of four umbrellas was correctly positioned; no ASDs were closed. A new double-hinged ("clamshell") umbrella device was designed: eight ASD closures were attempted with this device (defects ranged from 8 to 20 mm in diameter). Six of eight umbrellas were correctly positioned; four of four animals observed more than 1 day appeared to have complete closure on postmortem examination with endothelialization of the device. We conclude that 1) most ASD 2 degrees are far enough from vital structures to permit closure, 2) initial placement of hooked umbrellas is often incorrect and cannot be altered, 3) clamshell double umbrellas were successfully placed in six of eight attempts, and 4) endothelialization of closed ASDs appears complete within weeks of implantation. These preliminary studies appear promising and support testing the clamshell ASD device in clinical trials.

Animals↗
PubMed1995

Imaging and sizing of atrial septal defects by magnetic resonance.

BACKGROUND: Development of techniques for percutaneous closure of atrial septal defects (ASDs) makes accurate noninvasive sizing of ASDs important for appropriate patient selection. METHODS AND RESULTS: Magnetic resonance (MR) images of ASDs were obtained in 30 patients (mean age, 41 +/- 16 years) by both spin-echo and phase-contrast cine MR imaging. Spin-echo images were obtained in two orthogonal views (short-axis and four-chamber) perpendicular to the plane of the ASD. Spin-echo major and minor diameters were measured, and spin-echo defect area was calculated. Phase-contrast cine MR images were obtained in the plane of the ASD, and cine major diameter and defect area were measured from the region of signal enhancement or phase change due to shunt flow across the defect. MR measurements were compared with templates cut during surgery to match the defect or with ASD diameter determined by balloon sizing at catheterization. ASD size measured from cine MR images (y) agreed closely with catheterization and template standards (x). For major diameter, y = 0.78x + 5.7, r = .93, and SEE = 3.4 mm. On average, spin-echo measurements overestimated major diameter and area of secundum ASDs by 48% and 125%, respectively. CONCLUSIONS: Phase-contrast cine MR images acquired in the plane of an ASD define the defect shape by the cross section of the shunt flow stream and allow noninvasive determination of defect size with sufficient accuracy to permit stratification of patients to closure of the defect by catheter-based techniques versus surgery. Spin-echo images, on the other hand, are not adequate for defining ASD size, because septal thinning adjacent to a secundum ASD may appear to be part of the defect.

Adult↗
PubMed1975

Assessment of left ventricular function in secundum atrial septal defect: evaluation by determination of volume, pressure, and external systolic time indices.

Left ventricular function and volume data from 17 control subjects and 27 young patients with secundum atrial septal defect (ASD) without overt left or right ventricular failure were compared. ASD patients were subdivided in low shunt (Qp/Qs less than 2.0) and high shunt (Qp/Qs larger than or equal to 2.0) groups. Mean left ventricular (LV) stroke volume was significantly less in ASD patients (46 +/- 16 ml/m2 in the low shunt and 44 +/- 9 ml/m2 in high shunt group) compared with control patients (51 +/- 13 ml/m2, P less than 0.01 and P less than 0.02, respectively). There was no significant difference in mean left ventricular end-diastolic volume (LVEDV) between any group of patients (control subjects 67 +/- 17 ml/m2; low shunt ASD 66 +/- 17 Ml/m2, and high shunt ASD 62 +/- 12 ml/m2). High shunt ASD had a significantly lower cardiac index compared with control patients (5.0 liters/min/m2 vs. 5.9 liters/min/m2, P less than 0.02). Both low shunt and high shunt ASD showed significantly lower stroke work indices than control subjects (42 +/- 13 GmM/m2 and 37 +/- 8 GmM/m2 compared with 51 +/- 14 GmM/M2 , P less than 0.05 and P less than 0.001, respectively) but only the high shunt group had a significantly lower peak systolic pressure (94 +/- 12 mm Hg vs. 109 +/- 11 mm Hg for control patients, P less than 0.01). There was no significant difference between the control and ASD groups in LV end-diastolic, mean right atrial, right ventricular end-diastolic, and pulmonary pressures. External systolic time intervals were compared in 5 control and 12 ASD patients. There was no significant difference between the two groups of patients in absolute values or indices for pre-ejection period, ejection time, or electromechanical systole. However, the ratio of the pre-ejection period index to left ventricular ejection time index (PEPI/LVETI) was significantly higher in ASD patients (P less than 0.05). In young subjects with large shunt ASD, certain indicators of left ventricular function are depressed. Evaluation of PEPI/LVETI may allow noninvasive determination of LV function.

Adolescent↗
PubMed1999

Magnetoencephalographic patterns of epileptiform activity in children with regressive autism spectrum disorders.

BACKGROUND: One-third of children diagnosed with autism spectrum disorders (ASDs) are reported to have had normal early development followed by an autistic regression between the ages of 2 and 3 years. This clinical profile partly parallels that seen in Landau-Kleffner syndrome (LKS), an acquired language disorder (aphasia) believed to be caused by epileptiform activity. Given the additional observation that one-third of autistic children experience one or more seizures by adolescence, epileptiform activity may play a causal role in some cases of autism. OBJECTIVE: To compare and contrast patterns of epileptiform activity in children with autistic regressions versus classic LKS to determine if there is neurobiological overlap between these conditions. It was hypothesized that many children with regressive ASDs would show epileptiform activity in a multifocal pattern that includes the same brain regions implicated in LKS. DESIGN: Magnetoencephalography (MEG), a noninvasive method for identifying zones of abnormal brain electrophysiology, was used to evaluate patterns of epileptiform activity during stage III sleep in 6 children with classic LKS and 50 children with regressive ASDs with onset between 20 and 36 months of age (16 with autism and 34 with pervasive developmental disorder-not otherwise specified). Whereas 5 of the 6 children with LKS had been previously diagnosed with complex-partial seizures, a clinical seizure disorder had been diagnosed for only 15 of the 50 ASD children. However, all the children in this study had been reported to occasionally demonstrate unusual behaviors (eg, rapid blinking, holding of the hands to the ears, unprovoked crying episodes, and/or brief staring spells) which, if exhibited by a normal child, might be interpreted as indicative of a subclinical epileptiform condition. MEG data were compared with simultaneously recorded electroencephalography (EEG) data, and with data from previous 1-hour and/or 24-hour clinical EEG, when available. Multiple-dipole, spatiotemporal modeling was used to identify sites of origin and propagation for epileptiform transients. RESULTS: The MEG of all children with LKS showed primary or secondary epileptiform involvement of the left intra/perisylvian region, with all but 1 child showing additional involvement of the right sylvian region. In all cases of LKS, independent epileptiform activity beyond the sylvian region was absent, although propagation of activity to frontal or parietal regions was seen occasionally. MEG identified epileptiform activity in 41 of the 50 (82%) children with ASDs. In contrast, simultaneous EEG revealed epileptiform activity in only 68%. When epileptiform activity was present in the ASDs, the same intra/perisylvian regions seen to be epileptiform in LKS were active in 85% of the cases. Whereas primary activity outside of the sylvian regions was not seen for any of the children with LKS, 75% of the ASD children with epileptiform activity demonstrated additional nonsylvian zones of independent epileptiform activity. Despite the multifocal nature of the epileptiform activity in the ASDs, neurosurgical intervention aimed at control has lead to a reduction of autistic features and improvement in language skills in 12 of 18 cases. CONCLUSIONS: This study demonstrates that there is a subset of children with ASDs who demonstrate clinically relevant epileptiform activity during slow-wave sleep, and that this activity may be present even in the absence of a clinical seizure disorder. MEG showed significantly greater sensitivity to this epileptiform activity than simultaneous EEG, 1-hour clinical EEG, and 24-hour clinical EEG. The multifocal epileptiform pattern identified by MEG in the ASDs typically includes the same perisylvian brain regions identified as abnormal in LKS. When epileptiform activity is present in the ASDs, therapeutic strategies (antiepileptic drugs, steroids, and even neurosurgery) aimed at its control can lead to a significa

Autistic Disorder↗
PubMed2005

Modeling clinical outcome of children with autistic spectrum disorders.

OBJECTIVES: Autistic spectrum disorders (ASD) have variable developmental outcomes, for reasons that are not entirely clear. The objective of this study was to test the clinical observation that initial developmental parameters (degree of atypicality and level of intelligence) are a major predictor of outcome in children with ASD and to develop a statistical method for modeling outcome on the basis of these parameters. METHODS: A retrospective chart review was conducted of a child development program at a tertiary center for the evaluation of children with developmental disabilities. All children who had ASD, were seen by J.C. between July 1997 and December 2002, met Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria for autism or pervasive developmental disorder (referred to hereafter as ASD), had undergone at least 1 administration of the Childhood Autism Rating Scale (CARS), and had at least 1 determination of developmental quotient (DQ) or IQ (N = 91) were studied. The sample was 92.3% male and 80.2% white. METHODS: The DSM-IV was used to confirm that each patient met criteria for a diagnosis of autism or pervasive developmental disorder. The CARS was used to quantify the severity of expression of ASD. Age at evaluation, CARS score, and DQ or IQ at each visit were extracted from the medical record. The 2 independent sample t test or the Mann-Whitney test was used for comparing CARS and age between 2 groups: first recorded DQ or IQ <0.70 (n = 58) versus first recorded DQ or IQ >or=0.70 (n = 33). Associations among CARS score, IQ or DQ, and age were examined using Pearson or Spearman correlation. A mixed-effect model was used for expressing the multivariate model. Length of follow-up (period) was calculated by subtracting age in months at initial evaluation from age in months at each follow-up evaluation. Therefore, at first evaluation, period = 0. Period was considered as a random effect because collection of repeated information from patients was not uniform. The predictive relationships among CARS, age at first evaluation, period, and DQ or IQ group (<0.70 and >or=0.70) were examined using a mixed-effects model. Variables that were expressed as percentage change between first and last measurements were analyzed using the t test or the Mann-Whitney test. Socioeconomic status was assessed using Hollingshead criteria. RESULTS: All patients met DSM-IV criteria for ASD. Mean age at initial evaluation was 46.2 months (SD: 23.7; range: 20.0-167.3 months). Mean CARS score at initial evaluation was 36.1 (SD: 6.3; range: 21.5-48). Mean DQ or IQ at initial evaluation was 0.65 (SD: 0.20; range: 0.16-1.10). There was no significant difference in socioeconomic status between DQ/IQ groups. CARS scores among children with an initial DQ or IQ <0.70 showed no significant decrement with time. In contrast, CARS scores among children with an initial DQ or IQ >or=0.70 showed a significant decrement with time, which could be modeled by the formula CARS = 37.93 - [(0.12 x age in months at first visit) + (0.23 x period)]. The predicted CARS scores generated by this model correlated with the observed values (r = 0.71) and explained 50% of the variability in the CARS scores for this group. CONCLUSIONS: These data provide preliminary validation of a statistical model for clinical outcome of ASD on the basis of 3 parameters: age, degree of atypicality, and level of intelligence. This model, if replicated in a prospective, population-based sample that is controlled for treatment modalities, will enhance our ability to offer a prognosis for the child with ASD and will provide a benchmark against which to judge the putative benefits of various treatments for ASD. Our model may also be useful in etiologic and epidemiologic studies of ASD, because different causes of ASD are likely to follow different developmental trajectories along these 3 parameters.

Adolescent↗
PubMed2006

Transcatheter closure of complex atrial septal defects: feasibility and mid-term results.

OBJECTIVE: Transcatheter closure of atrial septal defects (ASDs) is currently a reliable alternative to surgery, even though challenging in the case of complex septal anatomy. The aim of this study was to evaluate the feasibility and mid-term results of percutaneous closure of complex ASDs in a tertiary referral centre compared with simple ASD closure. METHODS: Between April 2000 and November 2004, 209 patients were submitted to transcatheter ASD closure; 83 patients (39.7%) presented with a complex defect (large ASDs with a deficient rim or a multifenestrated/aneurysmal septum) and were treated using different devices tailored to the atrial septal anatomy. RESULTS: The transcatheter procedure was successful in 72 patients (86.8%), using a single device in 69 patients and two devices in the remaining three patients. Overall, 71 Amplatzer septal occluders, two multifenestrated Amplatzer septal occluders and two Cardioseal/Starflex devices were used. Procedural and fluoroscopy times were 141 +/- 45 min and 28 +/- 22 min, respectively (P < 0.0001 vs. simple ASD closure for both comparisons). Procedure-related complications were recorded in nine patients (12.5%) (P < 0.01 vs. simple ASD closure). One patient required surgical repair of a femoral arteriovenous fistula and another developed mitral valve dysfunction. Immediate ASD occlusion was recorded in 59.7% of patients, reaching 95.9% at the last follow-up control (P = NS vs. simple ASD closure for both comparisons). CONCLUSIONS: Percutaneous closure of complex ASDs may be considered technically feasible, relatively safe and highly effective, although the procedure is still significantly more demanding than transcatheter closure of simple ASDs.

Adolescent↗
PubMed2022

Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome.

Autism spectrum disorder (ASD) is an early onset, developmental disorder whose genetic cause is heterogeneous and complex. In total, 70% of ASD cases are due to an unknown etiology. Among the monogenic causes of ASD, fragile X syndrome (FXS) accounts for 2-4% of ASD cases, and 60% of individuals with FXS present with ASD. Epigenetic changes, specifically DNA methylation, which modulates gene expression levels, play a significant role in the pathogenesis of both disorders. Thus, in this study, using the Human Methylation EPIC Bead Chip, we examined the global DNA methylation profiles of biological samples derived from 57 age-matched male participants (2-6 years old), including 23 subjects with ASD, 23 subjects with FXS with ASD (FXSA) and 11 typical developing (TD) children. After controlling for technical variation and white blood cell composition, using the conservatory threshold of the false discovery rate (FDR &#x2264; 0.05), in the three comparison groups, TD vs. AD, TD vs. FXSA and ASD vs. FXSA, we identified 156, 79 and 3100 differentially methylated sites (DMS), and 14, 13 and 263 differential methylation regions (DMRs). Interestingly, several genes differentially methylated among the three groups were among those listed in the SFARI Gene database, including the PAK2, GTF2I and FOXP1 genes important for brain development. Further, enrichment analyses identified pathways involved in several functions, including synaptic plasticity. Our preliminary study identified a significant role of altered DNA methylation in the pathology of ASD and FXS, suggesting that the characterization of a DNA methylation signature may help to unravel the pathogenicity of FXS and ASD and may help the development of an improved diagnostic classification of children with ASD and FXSA. In addition, it may pave the way for developing therapeutic interventions that could reverse the altered methylome profile in children with neurodevelopmental disorders.

Child↗
PubMed2003

Association of autistic spectrum disorder and the measles, mumps, and rubella vaccine: a systematic review of current epidemiological evidence.

OBJECTIVE: To systematically review the evidence for and against the existence of an association between autistic spectrum disorder (ASD) and the measles, mumps, and rubella (MMR) vaccine. STUDY DESIGN: We conducted a systematic review of the medical literature to identify all controlled epidemiological articles examining for an association between ASD and the MMR vaccine. We extracted data from the articles on the characteristics and objectives of the study as well as evidence of an association. RESULTS: Twelve articles met the inclusion criteria. One study found no difference in the rates of ASD and the MMR vaccine in children who were vaccinated and those who were not. Six studies examined for evidence of an increase in ASD associated with an increase in the MMR vaccine coverage, none of which showed evidence of an association. Four studies examined if a variant form of ASD was associated with the MMR vaccine, none of which showed evidence of an association. Eight studies attempted to determine if there was a temporal association between developing ASD and receiving the MMR vaccine. Of these, 1 study identified an increase in parental concern in the 6-month period following vaccination with MMR in one of its analyses. The results of all other studies showed no association between ASD and the MMR vaccine. CONCLUSIONS: The current literature does not suggest an association between ASD and the MMR vaccine; however, limited epidemiological evidence exists to rule out a link between a rare variant form of ASD and the MMR vaccine. Given the real risks of not vaccinating and that the risks and existence of variant ASD remain theoretical, current policies should continue to advocate the use of the MMR vaccine.

Autistic Disorder↗
PubMed2003

Family study of affective spectrum disorder.

BACKGROUND: Affective spectrum disorder (ASD) represents a group of psychiatric and medical conditions, each known to respond to several chemical families of antidepressant medications and hence possibly linked by common heritable abnormalities. Forms of ASD include major depressive disorder (MDD), attention-deficit/hyperactivity disorder, bulimia nervosa, cataplexy, dysthymic disorder, fibromyalgia, generalized anxiety disorder, irritable bowel syndrome, migraine, obsessive-compulsive disorder, panic disorder, posttraumatic stress disorder, premenstrual dysphoric disorder, and social phobia. Two predictions of the ASD hypothesis were tested: that ASD, taken as a single entity, would aggregate in families and that MDD would coaggregate with other forms of ASD in families. METHODS: Probands with and without MDD, together with their first-degree relatives, were interviewed using the Structured Clinical Interview for DSM-IV and a supplemental interview for other forms of ASD. The familial aggregation and coaggregation of disorders were analyzed using proband predictive logistic regression models, including a novel bivariate model for the presence or absence of each of 2 disorders in a relative as predicted by the presence or absence of each of 2 disorders in the associated proband. RESULTS: In the 178 interviewed relatives of 64 probands with MDD and 152 relatives of 58 probands without MDD, the estimated odds ratio (95% confidence interval) for the familial aggregation of ASD as a whole was 2.5 (1.4-4.3; P =.001) and for the familial coaggregation of MDD with at least one other form of ASD was 1.9 (1.1-3.2; P =.02). CONCLUSIONS: Affective spectrum disorder aggregates strongly in families, and MDD displays a significant familial coaggregation with other forms of ASD, taken collectively. These results suggest that forms of ASD may share heritable pathophysiologic features.

Anxiety Disorders↗
PubMed2007

Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities.

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; approximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.

Adolescent↗
PubMed2004

New echocardiographic diameter for Amplatzer sizing in adult patients with secundum atrial septal defect: preliminary results.

Anatomical atrial septal defect (ASD) diameter measured by transesophageal echocardiography (TEE) underestimates the Amplatzer septal occluder (ASO) size for ASD closure. The aim of this study is to investigate whether a new echocardiographic diameter (procedural ASD diameter) may enable precise measurements of ASO device size. Fifty adult patients with secundum ASD were evaluated by TEE for percutaneous closure. The procedural ASD diameter was measured using the steadier rim borders where thickness was 2.5 mm. Out of the 50 patients, 12 were considered unsuitable for Amplatzer device closure. The other 38 patients underwent percutaneous closure. The mean anatomical ASD diameter was 14.8 +/- 7.0 mm, the mean procedural ASD diameter measured 19.5 +/- 8.1 mm, and the mean stretched balloon diameter (SBD) was 20.0 +/- 8.0 mm. ASO device size was 20.1 +/- 8.0 mm. At linear regression analysis, a high correlation (r = 0.99) was found between procedural ASD diameter and SBD. Procedural ASD diameter correlates with SBD and may allow reliable prediction of Amplatzer device in an adult population undergoing percutaneous ASD closure.

Adult↗