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PubMed2001

[Intermediate-term results after arthroscopic subacromial decompression with special reference to ongoing disability claims].

The objective was to evaluate mid-term results after arthroscopic subacromial decompression (ASD) with special focus on the bias due to an application to social insurance for pension based on sickness disability. The study group consisted of 42 patients (28 male, 14 female). ASD was performed in 1993 or 1994 for impingement stage II. The mean age was 49.5 years. Thirty-nine patients (93%) were evaluated by an independent observer for an average follow-up of 3.5 years (range 1.5-5). Patients satisfaction with the outcome was assessed by a visual analog scale graded from 0 (extremely dissatisfied) to 10 (extremely satisfied). The functional result was assessed using the Constant score. At follow-up the mean VAS value was 6.4 +/- 3.4. The Constant score improved from 49.6 +/- 18.5 to 84.8 +/- 14.3. The subgroup of patients having applied to social insurance for pension had significantly worse results compared with the remaining patients: VAS: 4.9 +/- 3.1 vs. 7.5 +/- 3.1; Constant-Score: 76.1 +/- 12.7 vs. 88.3 +/- 13.5. The fact that patients try to get benefit from social insurance based on sickness disability significantly biased the outcome after ASD.

Acromioclavicular Joint↗

PubMed2003

Cardiac dysrhythmias in pediatric patients before and 1 year after transcatheter closure of atrial septal defects using the amplatzer septal occluder.

To prospectively assess the incidence of cardiac dysrhythmias before and after closure of atrial septal defects (ASDs) using the Amplatzer septal occluder (ASO), 24-hour Holter electrocardiograms (ECGs) were performed before and 1 year after the procedure in 23 pediatric patients (9 male and 14 female). Patients' ages ranged from 2 to 15 years (mean, 7.1 years). All had an ASD of the secundum type that was completely closed (n = 22) or had a small residual shunt (n = 1). No preexisting dysrhythmia was present in 22 patients; atrioventricular nodal reentrant tachycardia had been diagnosed in 1 patient. During the observation period, no clinical dysrhythmia occurred. Analysis of the Holter ECGs before the intervention showed regular sinus rhythm in 20 patients and sinus rhythm with intermittent atrial rhythm in 3 patients. Atrial premature complexes (APCs) were detected in 1 patient, and a ventricular couplet was present in 1 patient. The Holter ECG 1 year after the intervention showed sinus rhythm in 18 patients and sinus rhythm with intermittent atrial rhythm in 5 patients. APCs were still observed in 1 patient and seen for the first time in 1 patient; 1 patient and rare ventricular premature complexes. In conclusion, cardiac dysrhythmias on Holter ECG in pediatric patients before and 1 year after transcatheter ASD closure with the ASO device are rare and benign. Regular Holter monitoring seems to be useful in detecting late dysrhythmias.

Adolescent↗

PubMedDate not supplied

Experience with use of multiplane transesophageal echocardiography to guide closure of atrial septal defects using the amplatzer device.

By providing unlimited imaging planes, multiplane transesophageal echocardiography (MTEE) should improve real-time guidance of interventional procedures. The potential advantages of MTEE in this scenario have not been systematically evaluated. We retrospectively reviewed our experience with MTEE-guided Amplatzer device closure of atrial septal defects (ASDs) MTEE angles used to obtain images for guiding all measurements and maneuvers were recorded. These angles were compared to the range of MTEE angles that are postulated to be available from biplane TEE. Images obtained using MTEE angles from 21 degrees to 70 degrees and from 111 degrees to l59 degrees were defined as only obtainable by MTEE. The MTEE probe was successfully introduced in all (89) patients. Thirteen patients (15%) had multiple defects. Ninety-five devices (5-32 mm in diameter) were deployed. In 66% of patients, balloon sizing and device deployment necessitated imaging planes that are only obtainable by MTEE. All devices were well positioned, with no impingement on inflows or outflows. At follow-up, 79 of 89 (88.7%) patients had no residual ASDs. Each of the remaining 10 patients (11.3%) had a small (<3 mm) residual defect. MTEE played an important role in guiding device closure of ASD, particularly during the phases of balloon sizing and device deployment.

Adolescent↗

PubMedDate not supplied

Long-term outcome after surgical closure of atrial septal defect in childhood with extensive assessment including MRI measurement of the ventricles.

Surgical closure of the secundum type of atrial septal defect (ASD) in childhood leads to excellent survival. However, relevant morbidity has been reported. Transcatheter closure of these defects has now become an alternative approach. To compare the results of the two different interventions, reliable data are needed on the long-term morbidity after defect closure with both methods. Patients were evaluated after a minimum of 10 years after surgical closure of an ASD in childhood. Assessment included analysis of perioperative data, interview, clinical examination, electrocardiogram, (ECG), 24-hour ECG, ergometry, chest radiograph, echocardiography, and MRI. A total of 66 patients underwent operation between 1971 and 1986 at our institution. Forty-eight of them (73%) were interviewed and 38 (58%) participated fully in the study program. Eighteen (27%) either refused to participate or were lost to follow-up. There were no substantial residual disorders, such as arrhythmias, right-sided heart dilatation, pulmonary hypertension, or reduced work capacity. Surgical closure of an ASD in childhood has an excellent long-term outcome. Surgical closure is thus the standard against which transcatheter closure needs to be measured.

Adolescent↗

PubMedDate not supplied

Patent foramen ovale and left atrial appendage: new devices and methods for closure.

Transcatheter closure of atrial septal defects (ASDs) has become a routine procedure in many countries of the world. It spares many patients cardiac surgery and has proven efficacy in long-term studies. Device improvements have resulted in a continuous reduction of complications and of residual shunt frequency. ASD closure devices are also used for transcatheter closure of patent foramen ovale (PFO) for prevention of paradoxical embolism. In the past few years, there has been increasing interest in developing devices specifically designed for PFO closure. Although transcatheter closure of ASDs is well established, interventional closure of the left atrial appendage is in its development stage. Closure of the left atrial appendage is designed to reduce the risk of stroke in patients with atrial fibrillation in whom anticoagulation with Warfarin-type drugs is contraindicated. This article describes the latest developments in catheter closure of PFO and the left atrial appendage.

Atrial Appendage↗

PubMed2000

[Interventional occlusion of atrial septum defects larter than 20 mm in diameter].

UNLABELLED: Over the last few years, various devices for the interventional closure of atrial septal defects (ASD) up to a diameter of 20 mm have been developed. We report our clinical experience in closing ASD with a diameter larger than 20 mm diameter with the Amplatzer Septal Occluder (ASO). METHOD: The stretched diameter of the ASD was measured by inflating a sizing balloon within the defect until an indentation in the circumference in the balloon could be observed. An ASO with a stent diameter 2-4 mm larger than the indentation in the circumference of the balloon was chosen and implanted via 9-12 French sheaths. In contrast to the closure of smaller defects, pullback of the device onto the atrial septum was only performed when the connecting stent of the ASO was completely deployed in order to achieve maximal centering characteristics and optimal support of the retention skirt of the left atrial disc on the edges of the defect. Only then was the right atrial disc deployed and actively configured by advancing the sheath and the delivery cable against the atrial septum. Implantation was only attempted if the atrial septal rims (except the anterior rim around the aorta) measured more than 7 mm by echocardiography to avoid injury or disturbance of sensitive intracardiac structures. After placement, the fixation of the device and the mechanical stability was proven by an extensive "Minnesota wiggle". The ASO was released only when TEE showed no or a trivial residual color flow through the connecting stent; otherwise repositioning was performed. RESULTS: Out of 352 patients (P) with successful closure of interatrial defects, 70 P (age: 1.1-77.3 years) had stretched defects larger than 20 mm diameter (median 22 mm diameter (20-36), 25/75% quartiles = 20/26 mm). Mean shunt size was Qp:Qs 2.1:1 (0.7-3.9:1), mean fluoroscopy time 10.9 min (0-63). Complete closure could be achieved in 85.7/93.1/100% after 3 months, 1 and 2 years, respectively. Besides 3 P with persistent atrial fibrillation, only 5 P showed transient atrial tachyarrhythmias, 2 only periprocedural and 3 within the first 3 months after implantation were treated with beta-blocker. In one patient, an acute embolization of the device occurred because a diminished posterior rim was not visualized by a monoplane TEE probe necessitating surgical explantation and defect occlusion. Despite oversizing the device, no "mushrooming" misconfiguration were observed. CONCLUSION: Transcatheter closure of large atrial septal defects with the Amplatzer Septal Occluder is feasible, safe and effective. Risk of complications do not seem to occur more frequently than after closure of smaller defects if one adheres to certain sizing and implantation measures. The incidence of transient atrial tachyarrhythmias seems to be low.

Adolescent↗

PubMed2001

[Acute left heart failure after interventional occlusion of an atrial septal defect].

Congestive left ventricular failure after surgical closure of an atrial septal defect (ASD) has been repeatedly reported, particularly in the elderly. We present a case of left ventricular failure after a successful transcatheter closure of an ASD, which to our knowledge has not been described before. In a 78-year-old woman (50 kg, 160 cm) with well-preserved left ventricular function (ejection fraction 65%) and without coronary artery disease or arterial hypertension, an ASD (Qp/Qs 1.6:1) was closed with an Amplatzer Septal Occluder without a residual shunt. Two hours after the procedure, she developed pulmonary edema due to left ventricular failure (increase of end-diastolic diameter from 42 mm to 54 mm, ejection fraction 20%), had to be mechanically ventilated for 24 hours and needed catecholamines for 4 days. High doses of diuretics were supplied until the ejection fraction normalized (32%). The patient could not be discharged until two weeks after intervention. A reduced preload for decades may predispose acute left ventricular failure, particularly in the elderly with compromised ventricular compliance.

Aged↗

PubMed2004

Cerebral microembolism during transcatheter closure of patent foramen ovale.

BACKGROUND: Although transcatheter closure of patent foramen ovale (PFO) and atrial septal defect (ASD) has become a commonly performed intervention, the incidence of cerebral embolism with or without neurological deficits during such procedures has not been studied. METHODS: We monitored the middle cerebral artery in two different depths (48 mm and 53 mm) by continuous transcranial Doppler ultrasound during transcatheter PFO closure in 35 consecutive patients (F/M 20/15, mean age 47 +/- 11 years) and during ASD closure in 8 patients (F/M 7/1, mean age 45 +/- 5 years). All automatically detected high intensity transient signals (HITS) were manually reviewed to eliminate artifacts. RESULTS: HITS were detected in 33 of 35 patients (96%) with a median rate of 8 (interquartile range 4-19, range 2-29) HITS. The highest rates were observed when the septum was crossed with the guide wire (median 2; IQR 0-12; range 0-25) and when the left atrial disc was deployed (median 2; IQR 1-4; range 0-13). Despite this high rate of cerebral microembolism no clinically apparent neurological or neuropsychological deficit was observed. CONCLUSIONS: Silent cerebral embolism frequently occurs during transcatheter PFO and ASD closure. The peak of HITS at the time of crossing the septum with the guide wire may support the hypothesis that cerebral emboli in patients with PFO may originate from the septum itself. This may represent an alternative mechanism to the generally assumed paradoxical embolism.

Adult↗

PubMed2005

Outcome of muscle and bone development in congenital heart disease.

Muscles and bones of patients with congenital heart disease (CHD) are subject to various potentially deleterious influences during growth. The aim of the present study was to analyse the outcome of bone and muscle parameters in adolescents and young adults with a spectrum of CHD. Bone and muscle parameters of the forearm were examined at two standard sites, 4% and 65%, in 29 adolescents and young adults with CHD, aged 14-24 years, by quantitative computed tomography. For the entire study population, bone and muscle parameters did not deviate significantly from the reference values except for age- and gender-corrected body height (ASDS-height: -0.6+/-1.2, p=0.01). Both age- and gender- and height- and gender-corrected (HSDS) abnormal bone mass (BMC) was found at the distal radius in patients with Fontan repair (ASDS-BMC4%: -1.5+/-0.9, p=0.008; HSDS-BMC4%: -1.2+/-1.0, p=0.05) and in those in NYHA class III (ASDS-BMC4%: -1.3+/-0.4, p=0.001; HSDS-BMC4%: -1.4+/-0.5, p=0.004). There was minimal overlap between Fontan patients (n=6) and NYHA class III (5 Fontan patients were in NYHA class I or II). In conclusion, most patients with CHD show a normal muscle and bone development in proportion to their reduced body height. Further follow-up is required to determine whether patients in a worse clinical status (NYHA III) and those with single ventricle physiology are at increased risk of osteoporosis and fractures.

Adolescent↗

PubMed1998

Surgical closure of atrial septal defect. Minimally invasive cardiac surgery or median sternotomy?

BACKGROUND: Closure of ostium secundum atrial septal defect (ASD) vis median sternotomy (MS) is a simple procedure for most cardiac surgeons. Minimally invasive cardiac surgery (MICS) has recently been applied in the management of intracardiac lesions. METHODS: We report our experience in surgical closure of isolated ASD via MICS in 60 patients and via MS in 58 patients. There was no difference between these two groups in gender, age, body weight, ratio of systemic to pulmonary blood flow, and pulmonary arterial pressure. RESULTS: The duration of cardiopulmonary bypass was significantly longer in the MICS group than in the MS group [27 to 126 min (42 +/- 12) and 14 to 158 min (27 +/- 11), respectively; (p < 0.001]. However, the length of incision, incidence of temporary pacemaker wire insertion rate, duration of endotracheal intubation, timing of oral intake, postoperative day drainage amount, incidence of parenteral analgesic injection, postoperative length of stay, and return to normal activity interval were significant shorter and lower in patients of the MICS group than in those of the MS group. All the patients recovered rapidly from the surgery. Follow-up was complete in all patients, with no late complications and no residual shunt. CONCLUSION: Our results suggest that MICS is a good option for surgical closure of ASD.

Adolescent↗

PubMed1999

Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.

Argininosuccinic acid synthetase deficiency (ASD) is a rare disorder of urea cycle metabolism, with pronounced citrullinemia and orotic aciduria being characteristic biochemical features. To further investigate the role of plasma orotic acid and its possible use for monitoring the metabolic status in ASD, we determined plasma orotic acid, amino acid, and ammonium levels in plasma samples collected over a period of 3 years from a patient who is now 8 years of age. Orotic acid plasma concentrations varied widely from less than 1 micromol/l to more than 60 micromol/l. The renal clearance of orotic acid was eightfold the glomerular filtration rate, thus supporting an active mechanism underlying the excretion of this pyrimidine. Data obtained during a metabolic crisis yielded a statistically significant linear correlation of orotic acid plasma levels with those of glutamine and ammonium, which are generally accepted for assessment of the successful treatment of this disorder. Our data revealed no advantage of plasma orotic acid concentrations over the established amino acids (glutamine and arginine) and ammonium for determining acute treatment responses. Since several effects of high levels of orotic acid have been described in mammals, further research is necessary to assess a possible contribution of orotic acid to the pathogenesis of ASD and the use of plasma orotic acid levels in the long-term monitoring of these patients.

Amino Acids↗

PubMed2026

Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles.

Excitation (E)/inhibition (I) imbalance is considered a key mechanism in Autism Spectrum Disorder (ASD). However, E/I imbalance can have different etiologies with increased E relative to I (E > I) and increased I relative to E (E < I). Both neural profiles can be associated with altered clinical phenotype, suggesting "bell"-shape brain-behavior relationships. We derived E/I balance measures from resting-state EEG in a large sex-balanced sample of youths with and without autism (N = 310; 164 youths with ASD and 146 typically developing (TD) youths) to address group discriminative power of neural markers, their relation to social skills, and the potential to define different neural subtypes within the autistic group. We also conducted genome-wide copy number variant (CNV) and gene expression analyses to provide additional insight into distinct neural subtypes in autism. A high-density 128-channel electroencephalography (EEG) was used to register neural activity of participants, blood samples were collected from the ASD youths to obtain genomic DNA, and rich behavioral phenotyping was provided for each participant. The results revealed three subgroups within the autistic cohort with the presence of "typical" E/I, E > I, and E < I neural profiles. The two subgroups with E/I imbalance had altered clinical phenotypes. In addition, these subgroups had different genetic profiles, showing that genes within identified CNVs had distinct expression patterns with the evidence of more prenatal (E < I) vs. postnatal (E > I) gene expression. The study suggests that the proposed clustering approach has relevance for the identification of clinically meaningful neural and genetic subtypes within a heterogeneous autistic cohort.

Autism spectrum disorder↗

PubMed2004

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). Comparison of the two forms of PWS has, to date, not included the frequency of autistic behaviours, even though there are reports of an association between maternal duplications of 15q11-13 and autism spectrum disorders (ASD). It was predicted that maternal UPD PWS cases would be more prone to ASD than Del PWS cases due to their duplicated maternally expressed genes. A preliminary test of the hypothesis was conducted using postal and telephone surveys of matched, genetically verified, UPD and Del cases using the Autism Screening Questionnaire (ASQ) and the Vineland Adaptive Behaviour Scales (VABS). As predicted, UPD cases were reported as exhibiting significantly more autistic symptomatology. They also were born to older mothers and were reported on the VABS to have more deficits in motor control problems and fewer adaptive skills in the Daily Living Skills domain. Del cases were reportedly more skilled at jigsaw puzzles. The results lend further support to the notion that abnormality in the expression of maternal imprinted 15q11-13 genes may confer a susceptibility to ASD. They also suggest that there may be cognitive differences between the groups in processing visuo-spatial information.

Adolescent↗

PubMed2005

Childhood onset neuropsychiatric disorders in adult eating disorder patients. A pilot study.

BACKGROUND: Autism spectrum disorders (ASD) have been suggested to be overrepresented in anorexia nervosa. This study aimed to explore the comorbidity of ASD and other childhood onset neuropsychiatric disorders (COND) [attention-deficit/hyperactivity disorder (AD/HD) and tic disorders] in a group of severe eating disorder (ED) patients. METHOD: Thirty female ED patients from a specialist hospital clinic were examined on measures tapping into COND and personality disorders. RESULTS: In our group of longstanding ED, 53% had at least one COND diagnosis; 23% had ASD, 17% had AD/HD, and 27% had a tic disorder. CONCLUSIONS: These preliminary data suggest that COND may be common in patients with severe ED and should be kept in mind when treating these patients.

Adolescent↗

PubMed2006

Parenting interventions for children with autism spectrum and disruptive behavior disorders: opportunities for cross-fertilization.

Empirical support exists for parent training/education (PT/PE) interventions for children with disruptive behavior disorders (DBD) and autism spectrum disorders (ASD). While the models share common roots, current approaches have largely developed independently and the research findings have been disseminated in two different literature traditions: mental health and developmental disabilities. Given that these populations often have overlapping clinical needs and are likely to receive services in similar settings, efforts to integrate the knowledge gained in the disparate literature may be beneficial. This article provides a systematic overview of the current (1995-2005) empirical research on PT/PE for children with DBD and ASD; attending to factors for cross-fertilization. Twenty-two ASD and 38 DBD studies were coded for review. Literature was compared in three main areas: (1) research methodology, (2) focus of PT/PE intervention, and (3) PT/PE procedures. There was no overlap in publication outlets between the studies for the two populations. Results indicate that there are opportunities for cross-fertilization in the areas of (1) research methodology, (2) intervention targets, and (3) format of parenting interventions. The practical implications of integrating these two highly related areas of research are identified and discussed.

Autistic Disorder↗

PubMed2005

Brief report: relations between prosodic performance and communication and socialization ratings in high functioning speakers with autism spectrum disorders.

Shriberg et al. [Shriberg, L. et al. (2001). Journal of Speech, Language and Hearing Research, 44, 1097-1115] described prosody-voice features of 30 high functioning speakers with autistic spectrum disorder (ASD) compared to age-matched control speakers. The present study reports additional information on the speakers with ASD, including associations among prosody-voice variables and ratings of communication social abilities. Results suggest that the inappropriate sentential stress and hypernasality previously identified in some of these speakers is related to communication/sociability ratings. These findings and associated trends are interpreted to indicate important links between prosodic performance and social and communicative competence. They suggest the need for careful assessment of inappropriate prosody and voice features in speakers with ASD, and for effective intervention programs aimed at reducing the stigmatization of individuals with these conditions.

Adolescent↗

PubMed2005

Characteristics of children with autistic spectrum disorders served in comprehensive community-based mental health settings.

This study describes the characteristics of children with autistic spectrum disorders (ASD) receiving treatment in community mental health settings. Data from a national community mental health initiative was used to identify children who had received a primary diagnosis of ASD. These children were compared with children with other diagnoses on socio-demographic and psychosocial characteristics, presenting problems and service histories. Regardless of diagnosis, children were most often referred to service because of disruptive behaviors. Children with ASD were less likely to be referred for drug use, truancy or running away, but were more likely to be referred for social interaction difficulties and strange behavior. Many children had family histories of mental illness, substance abuse and domestic violence. Implications of these findings are discussed in detail.

Asperger Syndrome↗

PubMed2005

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.

In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children's caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.

Adaptation, Psychological↗