Autism and known medical conditions: myth and substance

There is general agreement that autism has an organic basis but there is less agreement on the frequency with which it is associated with known medical conditions. The evidence in the literature on the latter point is reviewed and it is concluded that the rate of known medical conditions in autism is probably about 10%; however the rate appears to be higher in cases of autism associated with profound mental retardation and in cases of atypical autism.     

Evaluation of methods for the quantitation of cysteines in proteins

Rett syndrome (RS) is a clinically defined disorder characterized by autistic behavior, and cognitive and motor skill loss early in life. We performed 1H-MRS of the brain in 3 cases of RS in comparison with in autism and controls. The older patient with RS demonstrated decreased N-acetylaspartate (NAA)/choline (Cho) and NAA/creatine (Cr) ratios when compared with the autism and control groups, whereas the younger patients did not demonstrate these decreased metabolite ratios. The Cho/Cr ratio did not differ among Rett syndrome, autism and controls. Since the clinical stage did not differ among the 3 cases of RS, it was suggested that NAA was decreased with increasing age and was not related with the clinical stage of RS. The NAA/Cho, NAA/Cr and Cho/Cr ratios did not differ between autism and controls. The present data suggest that there may be a secondary degenerative process of late onset in RS, which pathophysiologically differs from autism.     

Another advanced test of theory of mind: evidence from very high functioning adults with autism or asperger syndrome

Previous studies have found a subgroup of people with autism or Asperger Syndrome who pass second-order tests of theory of mind. However, such tests have a ceiling in developmental terms corresponding to a mental age of about 6 years. It is therefore impossible to say if such individuals are intact or impaired in their theory of mind skills. We report the performance of very high functioning adults with autism or Asperger Syndrome on an adult test of theory of mind ability. The task involved inferring the mental state of a person just from the information in photographs of a person's eyes. Relative to age-matched normal controls and a clinical control group (adults with Tourette Syndrome), the group with autism and Asperger Syndrome were significantly impaired on this task. The autism and Asperger Syndrome sample was also impaired on Happé's strange stories tasks. In contrast, they were unimpaired on two control tasks: recognising gender from the eye region of the face, and recognising basic emotions from the whole face. This provides evidence for subtle mindreading deficits in very high functioning individuals on the autistic continuum.     

Determination of pefloxacin and its main active metabolite in human serum by high-performance liquid chromatography

BACKGROUND: Investigation to see if there are key psychological risk indicators for autism in a random population study of children at 18 months of age; and to assess how well these discriminate children who receive a diagnosis of autism from other forms of developmental delay. METHOD: Sixteen thousand children in the southeast of England were screened for autism by their health visitor or GP, during their routine 18-month-old developmental check-up, using the CHAT (Checklist for Autism in Toddlers). From a previous high-risk study we predicted that children at 18 months of age who failed three items ('protodeclarative pointing', 'gaze-monitoring', and 'pretend play') would be at risk for receiving a diagnosis of autism. From other evidence, we further predicted that those 18-month-olds who failed one or two of the key items (either pretend play, or protodeclarative pointing and pretend play) would be at risk for developmental delay without autism. RESULTS: Twelve children out of the total population of 16,000 consistently failed the three key items. Of these, 10 (83.3%) received a diagnosis of autism. Thus, the false positive rate was 16.6% (2 out of 12 cases), and even these 2 cases were not normal. When the 10 children with autism were reassessed at 3.5 years of age, their diagnosis remained the same. Thus the false positive rate among the cases diagnosed with autism was zero. In contrast, of 22 children who consistently failed either protodeclarative pointing and/or pretend play, none received a diagnosis of autism, but 15 (68.2%) received a diagnosis of language delay. CONCLUSIONS: Consistent failure of the three key items from the CHAT at 18 months of age carries an 83.3% risk of autism; and this pattern of risk indicator is specific to autism when compared to other forms of developmental delay.     

Maternal origin of inv dup(15) chromosomes in infantile autism

Six male patients with infantile autism and an extra inverted duplicated chromosome 15[inv dup(15)] were reported in a previous study. These patients had four copies of the chromosome region 15pter-q13, or an inv dup(15)(pter-->q13; q13-->pter). In this new study, DNA from the families of four of the patients were analysed using Southern based RFLPs and microsatellite polymorphisms from the region. In all four cases the inv dup(15) chromosome was of maternal origin. Furthermore, the data suggests that it originated in the maternal meiotic process rather than in an early mitosis in the developmental process of the embryo. The extra chromosome contained material from both of the maternally derived 15-chromosomes. Based on the molecular data presented here, a model for the origin of chromosome markers of this type is proposed.     

Charcot-Marie-Tooth disease. Clinical study in 45 patients

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.     

CGG repeat interruptions in the FMR1 gene in patients with infantile autism

We determined the CGG repeat length and AGG interruptions in the FMR1 gene in normal Chinese subjects and patients with infantile autism and mild mental retardation. Genomic DNA was investigated by PCR and Southern hybridisation for CGG repeat number and PCR with Mnl I restriction analysis for AGG interruption. Both the normal subjects and the patients with autism have 53 CGG repeats in FMR1, and the majority have two interspersed AGG. Our normal Chinese subjects have a similar number of interspersed AGG as other populations. When compared with the normal subjects, the autism patients have less AGG interruptions and a different pattern of AGG distribution. There was a significant difference in the CGG configurations between normal subjects and patients with autism. The latter had less interspersed AGG, as in fragile X patients, but they did not have fragile X. A study on mentally retarded patients with no infantile autism should also be carried out to ascertain whether mental retardation alone may have contributed to such AGG pattern.     

Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia

Familial Hypercholesterolemia (FH) and Familial Defective Apolipoprotein B-100 (FDB) are monogenic, autosome, dominantly inherited diseases appearing as type II/a primary hypercholesterolemia. The frequency of the heterozygositic forms is 1:700-1:500 in European population. Both forms of hypercholesterolemia causes early onset coronary heart diseases (CHD). According to the recommendations of the international MED-PED program (Make Early Diagnoses--Prevent Early Death), we found 73 FH cases and their 377 first relatives (parents, siblings, children) were also assessed. 156 patients were diagnosed clinically FH (131 alive and 25 deceased), and 31.8% of the males and 32.4% of females suffered from early onset CHD. One family with FH consists of 5.46 members on the average and there are 2.39 FH patients in one family. In our FH cohort four patients with FDB (R3500Q mutation) were diagnosed with allelspecific PCR, and the mutation was detectable also in 9 cases out of 11 living family members. The plasma total cholesterol level of the FDB patients--especially at younger age--was very close to the normal values, which is in contrast to the findings in FH patients. Nevertheless, FDB can be one of the independent causes of the early onset CHD. Therefore, in families with high frequency of cardiovascular diseases the R3500Q mutation has to be considered.     

Palliative endoscopic treatment of proximal malignant biliary stenosis

24 patients (median age 71.5 years) with inoperable proximal malignant biliary obstruction were treated by insertion of endoscopic endoprostheses from January 1991 to August 1994. 10 patients had gallbladder cancer, 6 cancer of body or tail of pancreas, 5 cholangiocarcinoma and 3 other metastatic malignancy, respectively. 13 patients had type I, 10 had type II and 1 had type III proximal biliary stenosis (Bismuth classification). Stent occlusion or dislocation required a secondary stent insertion in 9 patients. In all cases there was adequate biliary drainage after stent insertion. Complications were: early cholangitis developed in 2 patients, late cholangitis in 5, stent dislocation in 3. One patient underwent an operation because of necrotising cholecystitis and subhepatic abscess. There was no bleeding, retroperitoneal perforation or pancreatitis. 18 patients died (median survival time 28 weeks) and 6 have been alive at the time of review for 15 weeks in average. Endoscopic stent insertion can be applied effectively also in the palliative treatment of proximal malignant biliary obstruction.     

Meta-analyses comparing theory of mind abilities of individuals with autism, individuals with mental retardation, and normally developing individuals

A deficit in theory of mind (ToM) abilities has been described as the core deficit in autism. The authors performed 3 meta-analyses, comparing ToM abilities of individuals with autism, individuals with mental retardation (MR), and normally developing individuals. Results indicated that individuals with autism and MR have impaired ToM abilities. The etiology associated with MR (i.e., Down syndrome, undifferentiated etiology) was found to be an important moderator variable. Chronological age (CA) and verbal mental age (VMA) of the normally developing children and CA, VMA, and performance mental age of individuals with MR, and type of matching between the groups were also found to be moderator variables. Discussion focuses on the implication of the findings and emphasizes the need to consider the specific etiology of comparison groups when studying abilities and impairments of individuals with autism and MR.     

Sexual relations in therapeutic situations

Patients who feel sexually violated by their therapists may complain to the health authorities. During recent years there has been an increasing number of such complaints. 15 cases were under investigation at the Directorate of Health in July 1992. Most of the doctors and psychologists involved had long therapeutic experience. The sexual contacts were of highly divergent types. In the majority of cases the therapists lacked the capacity to draw clear borderlines between professional and private life. Some of the therapists had a tendency to belittle the contacts. Sexual contact between patient and therapist has a detrimental effect upon the relationship and the mental functioning of the patients. Therapists acquainted with colleagues' sexual violations should react swiftly. Too lenient and permissive ethical and social attitudes towards sexual relationships between therapist and patient may be conducive to further abuse. It is important to incorporate the study and discussion of these problems into both the basic and postgraduate education of therapists. Therapists who have violated the norms for decent behaviour need professional support.     

Executive function in individuals with subthreshold autism traits.

Objective: Recent research has documented increased psychosocial difficulties in individuals who report higher-than-typical autistic traits but without an Autism Spectrum Disorder (ASD) diagnosis. Less is known, however, regarding the cognitive profile of individuals with subthreshold autism symptomatology. The objective of the present study was to provide additional insight into this issue and examine whether young adults who report higher degrees of autism traits also report experiencing increased difficulties with executive control. Method: The Behavior Rating Inventory of Executive Function was utilized to evaluate behavioral aspects of executive functioning in 66 and 28 individuals who endorsed high and low subthreshold levels of autism symptomatology, respectively. Results: After accounting for Attention Deficit/Hyperactivity Disorder (ADHD) symptomatology at both the group and individual participant levels, we found that autism traits continued to explain a significant amount of variance in participants' overall level of executive function (Global Executive Composite) as well as within most individual executive domains. Interestingly, the high and low trait groups did not differ on the inhibitory control and organization of materials scales, areas of functioning that appears to be largely spared in individuals with ASD as well. Conclusions: Findings from the present study are consistent with past research linking ASD and executive control impairment. In addition, ASD and ADHD traits were associated with unique contributions to the executive control profile of individuals with subthreshold autism symptomatology. This finding underscores the importance of accounting for ADHD symptomatology in studying ASD. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Clinico-epidemiologic study of the mental state of a group of elderly persons from the general population

A clinico-epidemiological study of a representative group of individuals older than 60 years of age from the general city population demonstrated that by far not all mental disorders of old age come into contact with a psychiatrist. A study of 1020 individuals (361 males and 659 females) detected 23 patients (2.3% of the studied population), who suffered from psychotic conditions and who were not registered in the neurophsychiatric dispensary: 6(0.6%) with schizophrenia, 6 (0.6%) -- with delusional psychoses of old age, 9 (0.9%) -- with vascular and senile psychoses and 2 (0.2%) -- with exogenous -- organic psychoses. Besides, in 29 cases (2.8%) there were signs of expressed organic dementia. In 38.9% of the studied individuals there were different mental abnormalities not attaining a psychotic level (initial weakly pronounced and mild psychoorganic conditions).     

Exposure to different spectra of light, continuous light and treatment with melatonin affect reproduction in the Indian desert gerbil Meriones hurrianae (Jerdon)

The present article aims to examine premorbid personality traits of psychiatric patients with various diagnoses by asking their close relatives to retrospectively rate the patients' usual self with a questionnaire designed for the five-factor model of personality, a rapidly emerging comprehensive theory of personality structure. Data for 140 patients and 84 controls were analyzed. Although psychiatric patients as a group were characterized by high neuroticism and low conscientiousness when compared with the healthy controls, there were only a few traits that distinguished a particular diagnostic group from either the normal control or from the rest of the patients: neurotic disorder patients had higher neuroticism scores than the normal controls; unipolar depressives had a higher conscientiousness score than the rest of the patient group. No salient premorbid trait was noted for patients with organic mental disorders, schizophrenic disorders or bipolar disorders.     

Outcome of femoral shaft fractures in the elderly

Published literature on fractures of the femoral shaft has reported results of treatment stratified by fracture type or treatment type. The current study analyzes the outcome of fractures of the femoral shaft in elderly patients. One hundred thirty-eight patients older than the age of 65 years sustained femoral shaft fractures. Ten percent of the patients had associated injuries. The majority of the patients had significant prefracture medical problems. Nonsurgical treatment was used in 29 cases. Surgical treatment in 109 patients consisted of cerclage wires in 13 cases, plates and screws in 58 cases, intramedullary nails in 26 cases, and long stem prostheses in 12 cases. Complications of treatment occurred in 46% of patients. The type of treatment did not influence the frequency of complications. Twenty percent of patients died within 6 months of the fracture. There was a significant difference in the age of the patients who survived compared with those who did not survive. The mental status of the patient was also a major determinant of survival. Alert and oriented patients had a much better chance of survival. The outcome of fractures of the femoral shafts cited in the literature is different from the results seen in this population of elderly patients. The observed complication rate of 46% and mortality rate of 20% in this series is similar to those reported for intertrochanteric fractures and femoral neck fractures. Age and mental status are important determinants in the survival of the patient regardless of the treatment administered.     

Attack-like schizophrenia with a "progressive" course and profound long-term remissions in old age

The author examined 131 patients with conditions of deep and durative remissions who had not been hospitalized during the past 20 years. Clinically they were characterized by some common traits. In most of the cases the premorbid personality and the character during the state of remission had hypersthenic traits. Manifest psychoses were seen mainly from 25-45 years. The subsequent development of the disease had infrequent prevalently affective-delusional attacks with a tendency to an intensification of phasic disorders in the involutional period and a subsequent regressive development of the disease in all cases in senescence.     

Assessing and interpreting personality change and continuity in patients treated for major depression.

Structural, mean- and individual-level, differential, and ipsative personality continuity were examined in 599 patients treated for major depression assigned to 1 of 6 forms of a 6-month pharmaco-psychotherapy program. Covariation among traits from the Five Factor model remained invariant across treatment, and patients described themselves as slightly more extraverted, open to experience, agreeable and conscientious, and substantially more emotional stable after treatment. Trait changes were only to a small extent explained by changes in depression severity. There was evidence for differential, individual-level, and ipsative stability, with stable personality profiles in terms of shape and to a lesser extent in terms of scatter and elevation. Traits remain relatively stable, except for emotional stability, despite the depressive state and the psychopharmacological interventions. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Computerized tomography and prognosis in paediatric head injury

The authors have analysed the computerized tomography (CT) findings and their correlation with the clinical state, early and late outcome in children and adolescents with head injuries (HI). This study represents clinical and CT data of 82 consecutive HI patients under 18 years of age. Among them 51 (62%) were boys and 31 (38%) girls. The application of CT to the evaluation of the morphologic manifestations of HI in children has shown some differences in forms and mechanisms of injury and in outcome compared to adults. In the paediatric HI the most frequent finding was diffuse brain swelling with CT evidence of ventricular and cisternal compression or obliteration. Prognostically the most unfavourable findings were shearing injury, intracerebral and subdural haematomas combined with brain swelling and parenchymal damage. According to the Lidcombe impairment scale, outcome from severe paediatric HI was determined in the 3rd and 6th months, one year and 2 years after the injury. The outcome two years after severe HI varied to a great extent and was better in children than in adults. Although there was long-term disruption of the patient's quality of life, our data show that as there are no predictors of individual outcomes in child HI, no child should be excluded from early and long-term rehabilitation.     

Cecal intussusception in calves]

Among the patients admitted to the II. Medical Animal Clinic of the University of Munich from 1986 through 1994, there were 51 calves at an age of up to three months with intussusceptions in the caecal region. The following forms were observed: caecocaecal (n = 12), caecocolic (n = 22), ileocaecocolic (n = 6), ileocaecal (n = 8), and jejunoileocolic (n = 3). In 40 cases, the intussusception occurred in the course of diarrheal disease. The most important signs were scant faeces, that often contained blood and/or mucus, and the finding of a hard viscus upon abdominal palpation. Colic was observed in 27% of patients. In 18 cases, surgical intervention was not attempted because of the advanced stage of the disease or severe accompanying disease. From the remaining 33 calves, eight were cured. The others were either destroyed or died because of extensive peritonitis or other diseases. This report is to draw attention to the fact that (caecal) intussusception should be considered in diarrheal calves when faecal output decreases suddenly, and the general state deteriorates.     

Mental state decoding abilities in young adults with borderline personality disorder traits.

Previous studies have demonstrated that patients with borderline personality disorder (BPD) tend to misattribute malevolence to benign social stimuli, including facial expressions. Yet, facial emotion recognition studies examining those with BPD have yielded mixed results, with some studies showing impaired accuracy and others demonstrating enhanced accuracy in the recognition of emotions or mental states. The current study examined the ability to decode mental states from photographs of just the eye region of faces in a nonclinical sample of young adults who exhibited BPD traits (high BPD) compared with those who did not (low BPD). Group differences in mental state decoding ability depended on the valence of the stimuli. The high-BPD group performed better for negative stimuli compared with the low-BPD group, but did not perform significantly different from the low-BPD group for stimuli of neutral or positive valence. The high-BPD group also demonstrated a response bias for attributing negative mental states to facial stimuli. In addition, findings suggested that the group difference in accuracy for negative stimuli could not be explained by response bias, because the group difference in response bias for negative stimuli did not reach significance. These findings suggest that BPD traits may be associated with enhanced ability to detect negative emotions and a bias for attributing negative emotions to nonnegative social stimuli. (PsycINFO Database Record (c) 2011 APA, all rights reserved)