Maternal sensitivity and overt aggression in young children with Down syndrome

Children with genetic syndromes offer a unique opportunity to combine genetic and environmental approaches to the study of aggression. Children with genetic syndromes associated with developmental delay are at increased risk for behavior problems, but little is known about risk and resilience factors. In this study, we examined maternal sensitivity of mothers of children with Down syndrome using home observations when their children were 2, 3, and 5 years old, and relations with maternal reports and observations of overt aggression at school at age 5. Maternal sensitivity at ages 2 and 3 years did not significantly predict child aggression at age 5, but low maternal sensitivity at age 5 was significantly related to overt aggression at both home and school. By replicating and extending earlier work, this study informs developmental theory and identifies an important maternal variable related to aggression in children with Down syndrome.     

Mapping self-reports of working memory deficits to executive dysfunction in Fragile X Mental Retardation 1 (FMR1) gene premutation carriers asymptomatic for FXTAS

Fragile X Syndrome is a neurodevelopmental disorder that is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation 1 (FMR1) gene. In recent years, the premutation (“carrier”) status has received considerable attention and there is now an emerging consensus that despite intellectual functioning being within the average range premutation males present with subtle executive function impairments that include poor inhibitory control, working memory deficits, and poor planning skills. The ranges of these skills, although not nearly as severe as seen in the full mutation, nonetheless serve to differentiate males with the premutation from males in the unaffected population. In the present study we extend these findings to suggest that behavioral markers, specifically self-report on the Brown Attention-Deficit Disorder Rating Scales, may serve as a clinically useful indicator or “signature” of the Fragile X Premutation status. We discuss the possibility that this measure provides a means to identify those at greatest risk for developing the newly identified neurodegenerative disorder that affects some premutation males – Fragile X Tremor/Ataxia Syndrome (FXTAS).     

Newborn temperament and Sudden Infant Death Syndrome: A comparison of victims and their cotwins

Temperament assessed in the newborn period was compared for four twin infants who subsequently died of Sudden Infant Death Syndrome (SIDS) and their surviving cotwins. The assessment focused on irritability, resistance to soothing, reactivity, reinforcement value, activity while awake, and activity during sleep. No differences were observed between cotwins on a combined irritability rating. SIDS victims, however, were less irritable than their siblings in response to aversive stimuli. When irritable, the SIDS infants were more difficult to soothe than their cotwins. While awake, SIDS infants were less active than their cotwins, but during sleep, no activity differences were observed. The SIDS infants were more reactive to orienting stimuli, and neither group was found to be more or less rewarding to the examiner. It was concluded that this study has helped to define behavioral variables that might be characteristic of infants whose subsequent deaths are attributed to SIDS.     

The New Biology and its Impact in Biomedical Strategies Against HIV/AIDS

Abstract. The sequencing of the human genome and the initiation of the structural genomics projects have ushered in a new age of biology that involves multi‐lab, high‐cost projects with broad task‐oriented goals rather than the more conventional hypothesis‐driven approach of the past. The new biology has led to the development of new sets of tools for the scientist to use in the quest to solve mysteries of human disease, biomolecular structure‐function relationships, and other burning biological questions. Nevertheless, the impact of the new biology on the field of AIDS investigation has been minimal, predominantly because many of the tools in the HIV field of study were developed before the full advance of the new biology was felt in the biomedical community. Many of the high‐cost megaprojects that involve large technological advances and are marketed as projects of promise to the biomedical community are not likely to significantly impact the field of HIV/AIDS research and cannot serve as a substitute for direct funding to the HIV/AIDS scientists working for vaccine development, an understanding of mechanisms of disease causation, and new tools for therapeutic intervention.     

IMPROVING THE GENERALIZED MNEMONIC PERFORMANCE OF A DOWN'S SYNDROME CHILD1

A training program was conducted to improve the generalized mnemonic performance, or memory, of a Down's Syndrome child. Training was directed at digit-span performance with generalization from training determined by responses to untrained mnemonic performance probes. The digit-span items varied in length from three to five digits. Each length constituted an item class, with each class trained within the framework of a multiple-baseline design. Probes consisted of untrained digit-span items, grammatical sentences, nongrammatical sentences, and match-to-sample items. A training procedure, in which 15 items from each class varied continually from trial to trial and from day to day, resulted in the percentage of correct responses to both training and probe items increasing to levels substantially above baseline. The results demonstrate the effectiveness of the training procedure in improving the generalized mnemonic performance of a Down's Syndrome child.     

An under‐active or over‐active internal world?

This paper explores the dynamics brought into analytic work when there is a symmetric fusion between psyche and soma within the patient. It will consider how such a fusion may emerge from reverberations between physical constitution and a lack of maternal attunement, containment and reflective function. I will describe the work with a patient, Jane, who was diagnosed with Myalgic Encephalomyelitis (ME) during the course of her analysis. The dynamic of her physical symptoms within the analytic work, and the impact of her internal affects and internal 'objects' within the transference and countertransference, indicated a difficulty in finding an homeostatic balance resulting in overactivity and underactivity at both somatic and psychological levels. Using the clinical work with Jane this paper will also examine the interrelationship between mother-infant attachment, an inadequate internalized maternal reflective function, affect dysregulation, unconscious fusion, the lack of psyche-soma differentiation and the impact of the latter in relation to internal regulation systems, or lack of, in patients with Chronic Fatigue Syndrome (CFS) and Myalgic Encephalomyelitis (ME). I will draw on similar work carried out by Holland (1997), Simpson (1997) and Simpson et al. (1997). The paper will also employ the concept of the reflective function (Fonagy 2001; Knox 2003), and consider Matte-Blanco's (1999) concepts of generalization and unconscious symmetry in relation to the patient's internal world. I go on to consider how analysis provides a point outside the 'fusion' that can enable the 'deadlock' to be broken.     

Impaired verbal short-term memory in Down syndrome reflects a capacity limitation rather than atypically rapid forgetting

Individuals with Down syndrome suffer from relatively poor verbal short-term memory. Recent work has indicated that this deficit is not caused by problems of audition, speech, or articulatory rehearsal within the phonological loop component of Baddeley and Hitch's working memory model. Given this, two experiments were conducted to investigate whether abnormally rapid decay underlies the deficit. In a first experiment, we attempted to vary the time available for decay using a modified serial recall procedure that had both verbal and visuospatial conditions. No evidence was found to suggest that forgetting is abnormally rapid in phonological memory in Down syndrome, but a selective phonological memory deficit was indicated. A second experiment further investigated possible problems of decay in phonological memory, restricted to item information. The results indicated that individuals with Down syndrome do not show atypically rapid item forgetting from phonological memory but may have a limited-capacity verbal short-term memory system.     

Sequential Down Syndrome Screening: The Importance of First and Second Trimester Test Correlations when Calculating Risk

Down syndrome screening can be particularly effective when both first and second trimester tests are performed. However, the counseling of women who have received sequential first and second trimester screening can be problematic. We evaluated an approximation where the post-test risk from the first trimester screening is used as the new a priori risk for the second trimester screening. The approximation disregards between-trimester test correlations. The Down syndrome detection rate based on the approximation (90.2%) would be close to that obtained when all correlations were considered (90.8%) but the false positive rate would be 26% higher (3.9% versus 3.1%, respectively). For any particular woman, the use of the approximation could result in highly inaccurate risks. We conclude that the correlations that exist between first and second trimester screening tests preclude the use of second trimester risks derived from the direct product of separate first and second trimester screening. Counseling issues in the delivery of sequential screening are discussed.     

The effect of manual movements on stuttering in individuals with down syndrome

PurposeStuttering may disrupt the speech of individuals with Down syndrome (DS), but standard stuttering therapies may be less adapted to these clients’ needs. This study examined if their strength in gesture use can lead to the development of a new stuttering therapy.MethodEighteen individuals with DS who stutter participated in an experimental task. During this task, they produced sentences in three different conditions: once without the ability to use gestures, once while moving the mouth of a hand puppet synchronous with their speech, and once while making beat gestures along their speech. Stuttering frequency was measured and compared between conditions while controlling for the effect of articulation rate.ResultsThe experimental hand puppet and beat condition did not affect the stuttering frequency, but the covariate articulation rate did. An exploratory posthoc analysis showed that the articulation rate decreased during the experimental hand puppet and beat condition. Manual movements in the present task might only induce fluency through articulation rate reduction. However, analyses at individual level show significant interindividual variability.ConclusionIndividual analyses show that effect on stuttering frequency cannot be attributed entirely to articulation rate reduction and that beat gestures might still play a role. However, at this point, there is not enough direct evidence to implement beat gestures in current stuttering therapy.