1. Hogan AJ. {{Visualizing carrier status: Fragile X syndrome and genetic diagnosis since the 1940s}}. {Endeavour}. 2012 Jan 16.
What does it look like to be the carrier of a genetic disease? Carrier status may be determined through the visual analysis of both genotypic and phenotypic evidence. Over the past 70 years, clinical geneticists have depended upon multiple strategies for identifying disease carriers within a family. This has included pedigree analysis, which was based upon clinical observations of individual family members and, in recent decades, cytogenetic and molecular methods. Newer techniques have offered novel opportunities to actually see the suspected etiological markers of certain genetic diseases, such as Fragile X syndrome. The visualization of these markers has both clarified and confused previously observed inheritance patterns, in some cases leading to the development of newly distinct diagnostic categories. As a result, what it means to be affected by, or the carrier of, a genetic disease has continuously evolved.
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2. Komoto Y, Hashimoto N, Ikegami Y. {{[Effects of autism features on alcoholism–especially from the aspect of recovery promoting factors]}}. {Nihon Arukoru Yakubutsu Igakkai zasshi = Japanese journal of alcohol studies & drug dependence}. 2011 Oct;46(5):454-68; discussion 69.
OBJECTIVE: It is important to evaluate and classify individual features of patients to select an appropriate treatment for alcoholism. In this study, we classified alcoholism types according to strength/weakness of autism features and investigated how these features were associated with onset, course, and especially continuation of abstinence. SUBJECTS AND METHODS: The subjects were 102 man outpatients diagnosed with alcoholism. The investigations were made on 3 areas: 1. Basic background including age, family and occupational information, 2. Medical variables including the number of years since the first visit, with/without juvenile onset, psychiatric complications, hospital admission history, self-help group participation, and the longest abstinence period, and 3. Autism-spectrum Quotient (AQ) scores. The AQ test is a self-administered test of autism features on a maximum scale of 50 points, based on the concept of « autism spectrum ». RESULTS: The mean (standard deviation) of AQ scores of 102 subjects was 22.6 (7.18) with normal distribution. 78 subjects who had been followed-up for more than 2 years were classified into the low score (0-15) group of 11 subjects, the average score (16-29) group of 51 subjects, and the high score (30-50) group of 16 subjects, according to their AQ scores. No significant difference was observed in terms of patients’ background and medical variables, but the number of subjects with stable abstinence (more than 2 years) was higher in the high score group compared to the average and low score groups (p = 0.0208). CONCLUSION: At least for men, it was presumed that continuation of alcohol abstinence was more difficult in the average score group (general type) and the low score group (over-empathy type) compared to the high score group (autism type) (odds ratio: 5.76); treatment approaches should be managed appropriately for these 3 types. It was also shown that the AQ test was a useful indicator for abstinence prognosis.
3. Lotan M, Schenker R, Wine J, Downs J. {{The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study}}. {Developmental neurorehabilitation}. 2012;15(1):19-25.
Introduction: Rett syndrome (RTT) is a neurological disorder usually associated with a mutation in the MECP2 gene. Conductive Education (CE) is an educational approach that has not yet been explored with regard to children with RTT. Objective: Assessing functional abilities of individuals with RTT due to CE intervention. Design: A single subject, AB design. Method: This study assessed the functional skills of three girls with RTT aged 3-5 years before and during participation in a CE programme. Results: Gross motor function improvements were observed at the end of the intervention period. Gross motor skills declined slightly in all participants over the summer holidays but improved again a few months after recommencement of the educational year. Conclusion: Replication of this study with more subjects is justified as is comparison with other educational methods. A home intervention programme should be constructed to prevent decline of skills over the summer vacation.
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4. Myck-Wayne J, Robinson S, Henson E. {{Serving and supporting young children with a dual diagnosis of hearing loss and autism: the stories of four families}}. {American annals of the deaf}. 2011 Fall;156(4):379-90.
The research on young children with a dual diagnosis of hearing loss and autism spectrum disorder (ASD) is meager and scattered. Pockets of research on this population of children suggest that it is difficult to make the diagnosis of ASD in children with hearing loss. A case study design was used to examine the diagnostic process for young children and their families. The study found that the diagnosis of hearing loss was made first and that obtaining an ASD diagnosis and the appropriate services was complicated. The findings provide insight into how to support and provide intervention to families with children who have a dual diagnosis.
5. Niwa T, Aida N, Tanaka Y, Tanaka M, Shiomi M, Machida J. {{Scurvy in a Child With Autism: Magnetic Resonance Imaging and Pathological Findings}}. {Journal of pediatric hematology/oncology}. 2012 Jan 16.
We present a case of scurvy in a 6-year-old boy with autism and an unbalanced diet. The patient was admitted with difficulties in walking. Magnetic resonance imaging findings of the thigh showed diffuse signal abnormality in the bone marrow, periosteum, and the femoral muscle. A biopsy specimen of the femur showed hematoma, proliferative fibroblasts, and few collagen fibers, which suggested a deficiency of vitamin C. Although recurrent periosteal hematoma may be suggestive of scurvy, this finding was subtle in the current case. It is important to be aware of this rare disease because it is easily cured with vitamin C supplementation.
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6. Roche Martinez A, Alonso Colmenero MI, Gomes Pereira A, Sanmarti Vilaplana FX, Armstrong Moron J, Pineda Marfa M. {{Reflex seizures in Rett syndrome}}. {Epileptic disorders : international epilepsy journal with videotape}. 2011 Dec;13(4):389-93.
Reflex seizures are a rare phenomenon among epileptic patients, in which an epileptic discharge is triggered by various kinds of stimuli (visual, auditory, tactile or gustatory). Epilepsy is common in Rett syndrome patients (up to 70%), but to the authors’ knowledge, no pressure or eating-triggered seizures have yet been reported in Rett children. We describe three epileptic Rett patients with reflex seizures, triggered by food intake or proprioception. One patient with congenital Rett Sd. developed infantile epileptic spasms at around seven months and two patients with classic Rett Sd. presented with generalised tonic-clonic seizures at around five years. Reflex seizures appeared when the patients were teenagers. The congenital-Rett patient presented eating-triggered seizures at the beginning of almost every meal, demonstrated by EEG recording. Both classic Rett patients showed self-provoked pressure -triggered attacks, influenced by stress or excitement. Non-triggered seizures were controlled with carbamazepine or valproate, but reflex seizures did not respond to antiepileptic drugs. Risperidone partially improved self-provoked seizures. When reflex seizures are suspected, reproducing the trigger during EEG recording is fundamental; however, self-provoked seizures depend largely on the patient’s will. Optimal therapy (though not always possible) consists of avoiding the trigger. Stress modifiers such as risperidone may help control self-provoked seizures.
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7. Sotgiu I, Galati D, Manzano M, Gandione M, Gomez K, Romero Y, Rigardetto R. {{Parental attitudes, attachment styles, social networks, and psychological processes in autism spectrum disorders: a cross-cultural perspective}}. {The Journal of genetic psychology}. 2011 Oct-Dec;172(4):353-75.
In this study the authors used a cross-cultural approach to examine parental attitudes, attachment styles, social networks, and some of the psychological processes involved in Autism Spectrum Disorders (ASD). Fifty-two children (aged 4-11 years) took part in the study: 30 Italians (15 with ASD and 15 controls) and 22 Cubans (11 with ASD and 11 controls). Findings indicated significant differences between the two cultural groups in terms of the structure of the children’s social network and parental attitudes toward their children. However, the mother-child attachment relationship and cognitive and emotional functioning of the study participants were independent of culture.
8. Wan MW, Green J, Elsabbagh M, Johnson M, Charman T, Plummer F, the BT. {{Parent-infant interaction in infant siblings at risk of autism}}. {Res Dev Disabil}. 2012 Jan 16;33(3):924-32.
Recent models of the early emergence of autism spectrum disorder (ASD) propose an interaction between risk susceptibility and the infant’s social environment, resulting in a progressively atypical developmental trajectory. The infant’s early social environmental experience consists mostly of interaction with caregivers, yet there has been little systematic study of early parent-infant interaction in infants at risk of ASD. This study examined the global characteristics of parent-infant interaction in 6- to 10-month-old infants with an older sibling diagnosed with ASD (at-risk sibs), in comparison with a group of infants with no family history of ASD (low-risk sibs). As part of the British Autism Study of Infant Siblings (BASIS), 6-min videotaped unstructured play interactions of mother-infant dyads (45 at-risk sibs and 47 low-risk sibs) were rated on global aspects of parent-infant interaction, blind to participant information. Differences in global characteristics of interaction were observed in both infant and parent contributions in the at-risk group compared to low-risk controls. In analyses adjusted for age and developmental level, at-risk sib infants were less lively, and their parents showed higher directiveness, and lower sensitive responding (as a trend after adjustment). Level of infant liveliness was independent of other interactive behaviour. Consistent with reports in previous literature in older children with autism and in other neurodevelopmental disorders, our findings may suggest that infants at genetic risk are exposed to a more directive interactive style relatively early in infancy. We discuss possible explanations for these findings and implications for further developmental study and intervention.
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9. Zoghbi HY, Bear MF. {{Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities}}. {Cold Spring Harbor perspectives in biology}. 2012 Jan 18.
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function. The top-down approaches using human phenotypes and genetics helped identify causative genes and uncovered the broad spectrum of neuropsychiatric features that can result from various mutations in the same gene. Importantly, the human studies unveiled the exquisite sensitivity of cognitive function to precise levels of many diverse proteins. Bottom-up approaches applying molecular, biochemical, and neurophysiological studies to genetic models of these disorders revealed unsuspected pathogenic mechanisms and identified potential therapeutic targets. Moreover, studies in model organisms showed that symptoms of these devastating disorders can be reversed, which brings hope that affected individuals might benefit from interventions even after symptoms set in. Scientists predict that insights gained from studying these rare syndromic disorders will have an impact on the more common nonsyndromic autism and mild cognitive deficits.
