Subthreshold traits of the broad autistic spectrum are distributed across different subgroups in parents, but not siblings, of probands with autism.

Autism is a categorical developmental disorder characterized by impairment in socialization, communication, and by restricted and circumscribed interests. Several authors have described the presence of subthreshold autistic traits in the general population, pervasive developmental disorders representing the extreme end of their distribution. In this study, we explored the presence of autistic traits in siblings and parents of a proband with autism, and in siblings and parents of a normally developing child, using the previously validated self-report French Autism Quotient, an adaptation of the AQ developed by S. Baron-Cohen. Scores were distributed between two main factors, F1 corresponding to socialization and communication, F2 to imagination and rigidity. Here, we show that both parents and siblings of a child with autism have more symptomatic scores in the domains of communication and socialization. In addition, we show that in these families the parents, but not the siblings, are distributed across different subcategories, according to their scores for the F1 and F2 domains. We hypothesize that these different subgroups may correspond to different underlying genetic mechanisms.

[Abnormal electroencephalography results and specific language impairment: towards a theoretical neurodevelopmental model?]. / Anomalies électroencéphalographiques paroxystiques et troubles spécifiques du langage de l'enfant : vers un modèle neurodéveloppemental ?

BACKGROUND: Specific language impairment (SLI) is a primary developmental disorder in which language is significantly more impaired than other developmental domains. Abnormal electroencephalographic recordings without clinical seizures are often observed. The aim of this retrospective study was to characterize the frequency of these abnormalities, to describe them and to analyze their association with anamnestic, clinical, paraclinical and evolution characteristics. METHODS: The cases of 35 children with a diagnosis of SLI, who also underwent electroencephalography and MRI, were systematically reviewed retrospectively. RESULTS: In this population, aged between 4 and 7 years, 49% (n=17) of patients exhibited a specific expressive language disorder and 51% (n=18) a specific receptive disorder. Forty-nine percent of the children featured abnormal electroencephalography results. Abnormalities were essentially localized on the left side of the brain and in two specific regions: the temporo-occipital (60%) and the frontorolandic (30%) regions. The groups with and without abnormalities were compared statistically with each other in terms of clinical, paraclinical and evolution characteristics. Evolution data were available for 24 patients through a telephone interview and for nine patients through a new complete language evaluation. The comparison of the two groups showed significant differences in terms of severity of the phonological disorder, a higher number of delayed acquisition of walking and cleanliness and a higher range of non specific psychomotor difficulties. DISCUSSION: A large proportion of children suffering from SLI present abnormal electroencephalography recordings with no clinical seizures. This rate is much higher than in the general population and the abnormalities are essentially localized on the left side of the brain in regions known for their specific role in language development. These abnormalities are more frequent in children with a severe phonological disorder, suggesting that they may share common pathophysiological features with SLI. CONCLUSION: The presence of EEG abnormalities in a large group of patients suffering from SLI associated with minor neurological abnormalities suggests a possible theoretical neurodevelopmental model. Minor neurodevelopmental abnormalities, genetically transmitted or acquired during the pre- or perinatal period, may create vulnerability towards SLI. This vulnerability, in conjunction with environmental influences such as family environment, linguistic stimuli, exposure to multiple languages, or transitory hearing loss, might take the form of SLI. This hypothesis underlines the importance of prevention and early detection of SLI when identifying vulnerable subjects. Monitoring the family early through parental guidance and early school support would facilitate the acquisition of language.

[Psychometric properties of the French version of the prenatal attachment inventory in 112 pregnant women]. / Etude des propriétés psychométriques d'une échelle d'attachement prénatal. Version française de la Prenatal Attachment Inventory (PAI, Müller, 1993).

BACKGROUND: Maternal-foetal attachment is the term used to describe the relationship between a pregnant woman and her foetus. This concept, created in 1981 and based on maternal cognitive representations of the foetus, describes the degree to which a woman engages in attachment behaviours toward her unborn baby. Three scales have been developed to quantify maternofoetal attachment and only a few studies have been published (72 since 1981). None of theses three scales is available in French language. OBJECTIVES: The aim of the study is to provide psychometric data concerning the Prenatal Attachment Inventory when administered to healthy pregnant women. This scale was developed and revised by Müller in 1993 and consists of 21 items. The items describe the mother's troughs, feelings and relationship to the foetus. Each item has four Likert-type options: 4=almost always, 3=often, 2=sometimes, and 1=almost never. Examples of the PAI items are "I feel love for the baby", "I dream about the baby" and "I enjoy feeling the baby move". Furthermore, this present study explores the prenatal attachment for the first time in a French population. METHOD: The current study was based on 112 mothers and their babies. Pregnant women were recruited during the 34(th) and 38(th) weeks of gestation from the Port-Royal Maternity Hospital in Paris. Social and medical data were assessed by an auto-questionnaire. Prenatal attachment was measured by the Prenatal Attachment Inventory. The translation of the scale into French followed established guidelines, including appropriate use of independent back translation. RESULTS: The reliability of the instrument was tested using the Cronbach alpha coefficient of internal consistency. This proved to be satisfactory for the PAI total score, i.e. 0.86. Results of a confirmatory factor analysis confirmed that the data fitted well to the one factor model of the PAI. DISCUSSION: The results of this validation show that the French version of the PAI has psychometric characteristics similar to the original version. Major limitations of the study are the small size of the sample and the impossibility to compare this scale to another tool. Thanks to this validation, a tool measuring prenatal attachment is available in French language.

New evidences of gene and environment interactions affecting prenatal neurodevelopment in schizophrenia-spectrum disorders: a family dermatoglyphic study.

BACKGROUND: Several studies have reported an increase of dermatoglyphic anomalies in schizophrenic patients compared to controls. However, the recognition of specific dermatoglyphic variables related to this disorder and their genetic and/or environmental component are still controversial. METHOD: We conducted a dermatoglyphic analysis in a new sample of 617 individuals: 205 patients with schizophrenia-spectrum disorders, 224 healthy first degree relatives and 188 healthy controls. The dermatoglyphic variables studied were: the total a-b ridge count (TABRC) and its fluctuating asymmetry (FAABRC), and the presence of ridge dissociations (RD) and abnormal palmar flexion creases (APFC). RESULTS: Patients, relatives and controls did not differ in TABRC. However, within the patients group those with a low birth weight or absence of psychiatric family history showed lower TABRC than the others. The frequency of ectodermic derivates abnormalities (RD and/or APFC) appeared to be higher in patients and relatives than in controls, while first degree relatives did not differ from patients. Males showed an increased rate of ectodermic derivates abnormalities compared to females in all groups and male patients also presented higher FAABRC than female patients. CONCLUSIONS: Our results suggest a different relative weight of genetic and environmental factors on each dermatoglyphic variable analyzed: i) TABRC may be a sensitive marker to environmental factors in schizophrenia, ii) ectodermal derivates abnormalities appear to be influenced by genetic risk factors, which could be involved both in the disrupted development of ectodermic derivates like dermatoglyphics and central nervous system and in the vulnerability for schizophrenia.

[Maintenance electroconvulsive therapy and treatment of refractory schizophrenia]. / Place de l'électroconvulsivothérapie de maintenance dans le traitement des schizophrénies résistantes.

BACKGROUND: Electroconvulsive therapy, a standard treatment in mood disorders, is sometimes also indicated in psychotic disorders, especially in the treatment of refractory schizophrenia. In this instance, maintenance electroconvulsive therapy (M-ECT) can also become a long-term treatment. This paper presents the effects of M-ECT in the treatment of refractory schizophrenia using a retrospective analysis. Previous works showed that electroconvulsive therapy is effective on catatonia, anxiety with somatisation, lack of compliance, opposition, delusions especially with hallucinations and persecution, anorexia, agitation, carelessness, aggressive behaviour and moral pain. It is ineffective on bewilderment, somatic complaints and negative symptoms. AIM OF THE STUDY: A retrospective analysis of a clinical cohort of patients treated with M-ECT was carried out to determine the specific indications of M-ECT, its effectiveness on clinical symptoms, quality of life, relapse rates and use of medication. Nineteen patients with DSM-IV diagnosis of paranoid schizophrenia (n=5), schizophrenia with neurotic symptoms (n=3), disorganized schizophrenia (n=1), hebephrenia (n=3) and schizoaffective disorder (n=8), treated in the department of the University Hospital of Sainte-Anne in Paris, received M-ECT between 1991 and 2005. Seven patients are still under this treatment. Their mean age at the beginning of treatment was 47.5 years with a mean duration of the illness of 24 years. The indication of M-ECT was the increase of acute episodes, an increase of symptoms intensity, the inefficiency or intolerance to pharmacological treatments or an early relapse after ECT discontinuation. All patients had previously been successfully treated by ECT during an acute episode. Each patient received an average of 47 bilateral M-ECT under general anaesthesia at one to five weeks' intervals for a mean period of 43 months. All of them were also treated by antipsychotics; in addition, 30% received mood stabilizers and 10% antidepressants. The dosage of antidepressants and mood stabilizers was reduced during M-ECT treatment, especially in patients with schizoaffective disorder, probably in relation with the effectiveness of ECT on mood symptoms. RESULTS: During M-ECT, the mean duration of yearly hospitalizations was decreased by 80% and the mean duration of each hospitalization by 40% with a better ability to take part in activities, sometimes even to return home or go back to work. There was also a positive effect on quality of life considering the severity of symptoms and the long psychiatric history of these patients. The possibility to go from a full time hospitalization to a day-care facility or to live in a halfway house can be considered as a huge progress. M-ECT was efficient on mood symptoms, delusions, anorexia, suicidal impetus, anxiety symptoms and increased cooperation and treatment compliance. Efficacy on obsessive compulsive symptoms was less obvious. There was no effect on dissociation and negative symptoms. Relapses essentially occurred after a stressful life event, a too long interval between the M-ECT sessions or, in 50% of the cases, without any obvious etiology. It required a revision of the M-ECT program and, most of the time, an hospitalization for full ECT treatment. DISCUSSION: There is no consensus on the rate and number of M-ECT as it varies from patient to patient and depends upon the extent of the clinical response and side effects. The discontinuation of M-ECT will depend on the clinical symptoms, compliance and tolerance to ECT. As it is the case with ECT treatment for an acute episode, available evidence suggests that treatment with antipsychotics should continue during the maintenance ECT course. CONCLUSION: Maintenance electroconvulsive therapy combined with medication may be an efficient alternative to pharmacological treatment alone in refractory schizophrenia. Alternative therapeutical strategies are crucial in this domain, due to the important public health problem it raises. There are few randomised prospective controlled clinical trials regarding this treatment and further clinical investigations are necessary, notably to define standardized criteria for M-ECT programs.