Finding meaning in parenting a child with Asperger syndrome: correlates of sense making and benefit finding

This study explored the nature of two construals of meaning, benefit finding and sense making, in parents of a child with Asperger syndrome, and examined relations between both meaning constructs and the Double ABCX family stress model variables (initial stressor and pile-up of demands, appraisal, social support, coping strategies and adjustment) [H.I. McCubbin, J.M. Patterson, Social Stress and the Family: Advances and Developments in Family Stress Theory and Research, Haworth, New York, 1983, pp. 7-37]. A total of 59 parents completed questionnaires. Content analyses of parents' responses to questions inquiring about gains and sense making explanations revealed 8 benefit and 12 sense making themes. Results of correlations indicated that one or more of the meaning variables were related to each of the Double ABCX model predictors of parental adjustment. The meaning variables were positively related to adaptive coping processes: social support, self-efficacy, and problem-focused and emotional approach coping strategies. (C) 2004 Elsevier Ltd. All rights reserved.

Attitudes towards the sexuality of adults with an intellectual disability: parents, support staff, and a community sample

Attitudes toward the sexuality of adults with intellectual disability were assessed in parents and carers of adults with intellectual disability and in a community sample. An instrument that contained items relating to eight aspects of sexuality (sexual feelings, sex education, masturbation, personal relationships, sexual intercourse, sterilisation, marriage, and parenthood) was developed and found to have good internal consistency and test-retest reliability. Age was associated with attitudes, with those aged 60 and above holding more conservative attitudes. Parents and staff differed in their attitudes, with parents holding more conservative attitudes. This difference was the product of age differences between the groups; nevertheless it may produce some confusion for adults with intellectual disability unless it is addressed appropriately. Both parent and staff groups were less positive about parenthood than about other aspects of sexuality, however the community group did not differ in their views when attitudes towards parenthood were compared with the remaining items Of the scale.

Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse

The gene encoding the dual-specificity tyrosine-regulated kinase DYRK1A maps to the chromosomal segment HSA21q22.2, which lies within the Down syndrome critical region. The reduction in brain size and behavioral defects observed in mice lacking one copy of the murine homologue Dyrk1A (Dyrk1A+/-) support the idea that this kinase may be involved in monosomy 21 associated mental retardation. However, the structural basis of these behavioral defects remains unclear. In the present work, we have analyzed the microstructure of cortical circuitry in the Dyrk1A+/- mouse and control littermates by intracellular injection of Lucifer Yellow in fixed cortical tissue. We found that labeled pyramidal cells were considerably smaller, less branched and less spinous in the cortex of Dyrk1A+/- mice than in control littermates. These results suggest that Dyrk1A influences the size and complexity of pyramidal cells, and thus their capability to integrate information. (c) 2005 Elsevier Inc. All rights reserved.

Small regulatory RNAs in mammals

Mammalian cells harbor numerous small non-protein-coding RNAs, including small nucleolar RNAs (snoRNAs), microRNAs (miRNAs), short interfering RNAs (siRNAs) and small double-stranded RNAs, which regulate gene expression at many levels including chromatin architecture, RNA editing, RNA stability, translation, and quite possibly transcription and splicing. These RNAs are processed by multistep pathways from the introns and exons of longer primary transcripts, including protein-coding transcripts. Most show distinctive temporal- and tissue-specific expression patterns in different tissues, including embryonal stem cells and the brain, and some are imprinted. Small RNAs control a wide range of developmental and physiological pathways in animals, including hematopoietic differentiation, adipocyte differentiation and insulin secretion in mammals, and have been shown to be perturbed in cancer and other diseases. The extent of transcription of non-coding sequences and the abundance of small RNAs suggests the existence of an extensive regulatory network on the basis of RNA signaling which may underpin the development and much of the phenotypic variation in mammals and other complex organisms and which may have different genetic signatures from sequences encoding proteins.

Play behaviours and play object preferences of young children with autistic disorder in a clinical play environment

Play is the primary occupation of childhood and provides a potentially powerful means of assessing and treating children with autistic disorder. This study utilized a cross-sectional comparison design to investigate the nature of play engagement in children with AD (n = 24), relative to typically developing children (n = 34) matched for chronological age. Play behaviours were recorded in a clinical play environment. Videotapes comprising 15 minutes of the children's spontaneous play behaviour were analysed using time-interval analysis. The particular play behaviours observed and play objects used were coded. Differences in play behaviours (p < 0.0001) and play object preferences (p < 0.0001) were identified between the groups. Findings regarding play behaviour contribute to contention in the literature surrounding functional and symbolic play. Explanations for play object preferences are postulated. Recommendations are made regarding clinical application of findings in terms of enhancing assessment and intervention by augmenting motivation.

Bidirectional transport between the trans-Golgi network and the endosomal system

The exchange of proteins and lipids between the trans-Golgi network (TGN) and the endosomal system requires multiple cellular machines, whose activities are coordinated in space and time to generate pleomorphic, tubulo-vesicular carriers that deliver their content to their target compartments. These machines and their associated protein networks are recruited and/or activated on specific membrane domains where they select proteins and lipids into carriers, contribute to deform/elongate and partition membrane domains using the mechanical forces generated by actin polymerization or movement along microtubules. The coordinated action of these protein networks contributes to regulate the dynamic state of multiple receptors recycling between the cell surface, endosomes and the TGN, to maintain cell homeostasis as exemplified by the biogenesis of lysosomes and related organelles, and to establish/maintain cell polarity. The dynamic assembly and disassembly of these protein networks mediating the exchange of membrane domains between the TGN and endosomes regulates cell-cell signalling and thus the development of multi-cellular organisms. Somatic mutations in single network components lead to changes in transport dynamics that may contribute to pathological modifications underlying several human diseases such as mental retardation.

Photosensitive benign myoclonic epilepsy in infancy

Purpose: To describe the electroclinical features of subjects who presented with a photosensitive benign myoclonic epilepsy in infancy (PBMEI). Methods: The patients were selected from a group of epileptic subjects with seizure onset in infancy or early childhood. Inclusion criteria were the presence of photic-induced myoclonic seizures and a favorable outcome. Cases with less than 24 month follow up were excluded from the analysis. Results: Eight patients were identified (4 males, 4 females). Personal history was uneventful. All of them had familial antecedents of epilepsy. Psychomotor development was normal in 6 cases, both before and after seizure onset. One patient showed a mild mental retardation and a further patient showed some behavioral disturbances. Neuroradiological investigations, when performed (5 cases), gave normal results. The clinical manifestations were typical and could vary from upward movements of the eyes to myoclonic jerks of the head and shoulders, isolated or briefly repetitive, never causing a fall. Age of onset was between 11 months and 3 years and 2 months. Characteristically, the seizures were always triggered by photic stimulation. Non photo-induced spontaneous myoclonic attacks were reported in 2 cases during the follow-up. Other types of seizures were present at follow-up in 2 cases. The outcome was favorable, even if, usually, seizure control required high AED plasma levels. Since the clinical symptoms were not recognized early, some patients were treated only many years after the onset of symptoms. Conclusion: Among BMEI patients, our cases constitute a subgroup in which myoclonic jerks were always triggered by photostimulation, in particular at onset of their epilepsy. © 2006 International League Against Epilepsy.

A case of bilateral perisylvian syndrome with reading disability

Bilateral Perisylvian Syndrome (BPS) often presents with epilepsy and significant behavioral impairments that can include mental retardation, dysarthria, delayed speech development, and delayed fine motor development (Graff-Radford et al., 1986 and Kuzniecky et al., 1993). While a small subset of BPS cases have been described as having relatively isolated language delays (Leventer et al., 2010), BPS is not expected in children with dyslexia. As part of a Medical University of South Carolina, IRB approved multi-site study involving retrospective and de-identified dyslexia data, we unexpectedly identified a 14.05 year old male with evidence of BPS whose father had been diagnosed with dyslexia and dysgraphia. This child had been recruited for a neuroimaging study on dyslexia from a school specializing in educating children with dyslexia. The T1-weighted MRI scan from this child demonstrated a highly unusual perisylvian sulcal/gyral patterning that is a defining feature of BPS (Fig. 1). BPS cases exhibit bilateral dysgenesis of the Sylvian fissure and surrounding gyri, which appears to occur because of a limited or absent arcuate fasciculus (Kilinc, Ekinci, Demirkol, & Agan, 2015). This BPS case also had a relatively enlarged atrium of the lateral ventricle that is consistent with the BPS anatomical presentation and reduction of parietal white matter (Graff-Radford et al., 1986, Kilinc et al., 2015 and Toldo et al., 2011).

A qualitative study of the impact of an educational intervention on older parents of adults with disabilities engaged in the phenomenon of future-care planning

This phenomenological study describes the impact of an educational intervention on the day-to-day experiences of older parent caregivers of adults with developmental disabilities who were engaged in the process of future-care planning. Qualitative strategies of individual and focus group interviewing were used with a purposive sample of older caregivers. Participants were members of an existing parent support group. Twenty-three caregivers representing 18 families were queried before and after the education program. The disabilities represented were mental retardation, cerebral palsy and autism. Parents whose children live at or away from home were included. The intervention was conducted on five Saturdays over a two month period; the duration of the study was five months. Findings used typical words of the respondents from their individual and focus group interviews to describe feelings, attitudes and experiences in making future-care plans. Data from verbatim transcriptions and researcher's field notes were coded, analyzed, sorted into themes, and subjected to interpretive analysis. Respondents showed a positive change in attitudes and actions after participating in the education program, regardless of their initial stage in care planning. Fears were replaced by hope and determination; hesitation and ineptitude by feelings of competence and confidence; and procrastination and delay by purposeful actions. Other key findings: use of a planning document greatly aided caregivers; barriers to planning were often intrinsic and amenable to education; residential plans were the most difficult aspect of planning; listening to the experiences of other parent caregivers was helpful; and making burial plans for their offspring was one aspect of planning parents wished to do themselves. ^

Musicoterapia y Arteterapia. Puntos de encuentro en el camino terapéutico

En este artículo pretendemos buscar los aspectos que confluyen en el ámbito de la musicoterapia y el arteterapia, comenzando por su definición y orígenes y siguiendo con los modelos teóricos más importantes. Al analizar los trabajos de investigación elaborados a partir de proyectos en los que se combina la práctica de las dos disciplinas, observamos la necesidad de una mayor interdisciplinareidad. Esto daría lugar a un mayor enriquecimiento de las sesiones y por tanto, del trabajo terapéutico, lo que revertiría en una mejora de la calidad de la intervención.

Primary Immunodeficiency Associated with Chromosomal Aberration - an ESID Survey

Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.

Síndrome de temblor y ataxia asociado a frágil X (FXTAS): revisión de la literatura

El síndrome de temblor y ataxia asociado al síndrome del cromosoma X frágil (FXTAS) es un desorden neuro-degenerativo progresivo, de inicio tardío, que ocurre entre los portadores de la premutación del gen FMR1 (Fragile X Mental Retardation 1), el cual está estrechamente asociado con el síndrome del cromosoma X frágil (FXS). El FXTAS se caracteriza por déficits neurológicos que incluyen temblor de intención progresivo, ataxia cerebelosa, parkinsonismo, neuropatía periférica, déficits cognitivos y disfunción autonómica (2-4). El FXTAS surge como una importante opción diagnóstica en hombres con temblor, alteraciones en la marcha y síntomas neurodegenerativos. En general existe subregistro de esta patología dado que es un síndrome recientemente descrito y falta conocimiento de los profesionales de salud al respecto, los cuales, debido a la similitud de su presentación clínica con otros desórdenes neurológicos, generalmente suelen confundir el diagnóstico. En Colombia no se ha documentado la prevalencia de SXF o de FXTAS. Sin embargo, se ha descrito un corregimiento en el Valle del Cauca que tiene una prevalencia de más de cien veces lo reportado en la literatura de SFX, lo que sugiere que en Colombia existe subregistro del SFX y de FXTAS. Esta revisión tiene por objeto difundir los avances del conocimiento de las manifestaciones clínicas, la neurofisiopatología y las posibilidades de tratamiento de los pacientes con FXTAS, y así aumentar diagnóstico y aportar a mejorar la calidad de vida de los afectados y de sus familias.

Characterization of CDK5RAP2 as a novel regulator in the Hippo signaling pathway

CEP161 is a novel component of the Dictyostelium discoideum centrosome and is the ortholog of mammalian CDK5RAP2. Mutations in CDK5RAP2 are associated with autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder characterized by reduced head circumference, a reduction in the size of the cerebral cortex and a mild to moderate mental retardation. Here we show that the amino acids 1-763 of the 1381 amino acids of CEP161 protein are sufficient for centrosomal targeting and centrosome association. AX2 cells over-expressing truncated and full length CEP161 proteins have defects in growth and development. Furthermore, we identified the kinase SvkA (severinkinase A) as its interaction partner which is the D. discoideum Hippo related kinase designated here as Hrk-svk. Hrk-svk is the direct homolog of human MST1. Both proteins co-localize at the centrosome. We further demonstrate that this interaction is also conserved in mammals. We were able to show that CDK5RAP2 interacts with MST1 and TAZ and it also down-regulates the transcript levels of TAZ in HEK293T cells. Taken together, our data on Dictyostelium CEP161 and human CDK5RAP2 supports the hypothesis that CDK5RAP2 as a novel regulator of Hippo signaling pathway. We propose that CDK5RAP2 mutations may lead to a decrease in the number of neurons and the subsequent reduction of brain size by regulating the hippo signaling pathway.

Fragiili X -oireyhtymän molekyyligenetiikka ja diagnostiikka. Veritäpläpohjaisen fragiili X -testauksen pystyttäminen

Fragiili X (frax) -oireyhtymä on yleisin kehitysvammaisuuden perinnöllinen syy. Oireyhtymä periytyy X-kromosomissa, ja sen aiheuttaa sytosiini-guaniini-guaniini-emäskolmikon (CGG) monistuminen X-kromosomin Fragile X mental retardation 1 (FMR1) -geenin promoottorialueella. FMR1-alleelit voidaan luokitella (CGG)n-toistojen määrän mukaan neljään ryhmään: normaali (5–44), harmaa alue (45¬¬¬–54), epästabiili esimutaatio (55–200) tai täysmutaatio (yli 200). Esimutaatiotapauksissa toistojakso voi laajentua täysmutaatioksi jo yhden sukupolven aikana. Esimutaation kantajilla on havaittu monenlaisia oireita. Esimerkiksi osalla kantajanaisista on munarauhasen toiminnanhäiriöitä ja erityisesti miehillä on riski sairastua neurologiseen rappeumasairauteen. Täysmutaatiotapauksessa FMR1-promoottorialue metyloituu epänormaalisti ja geeni inaktivoituu. Täysmutaatiota kantavilla miehillä on aina frax-oireyhtymä, kun taas naisilla toisen terveen X-kromosomin suojavaikutus yleensä lieventää oireita sekä täys- että esimutaatiotapauksissa. Oireyhtymän yleisyyden, laajan oirekirjon ja lääkekehityksen edistymisen takia kiinnostus vastasyntyneiden ja kantajien seulontaa kohtaan on kasvanut. Tutkielman kokeellisessa osassa tavoitteena oli pystyttää veritäpläpohjainen automatisoitu DNA-eristysmenetelmä, joka soveltuu frax-oireyhtymän ja sen kantajien testaukseen PerkinElmerin FragilEaseTM-PCR-määrityksen kanssa. Kokonaisuudessaan testaus koostui DNA-eristyksestä, FragilEaseTM-PCR:stä, PCR-tuotteen puhdistuksesta ja monistustuotteiden havainnoinnista kapillaarigeeli-elektroforeesilla. Jokaista vaihetta optimoitiin veritäplätestaukseen sopivaksi. Frax-testaus todistettiin toimivaksi sekä aikuisten että vastasyntyneiden veritäplillä. Halkaisijaltaan 3,2 mm veritäplistä eristettyjen DNA-näytteiden epäpuhtauksista ja alhaisista pitoisuuksista huolimatta FragilEaseTM-PCR:ssä onnistuttiin monistamaan (CGG)n-alueet pienentämällä eristysnäytteiden reaktiotilavuutta ja nostamalla PCR-syklimäärää. Pisin testattu monistusalue oli 200 toistojaksoa. Lisäksi muokkaamalla DNA-eristysvaihetta ja muuttamalla PCR-tuotteen puhdistusmenetelmää onnistuttiin nostamaan lopullista saantoa. Veritäpläpohjaisen frax-testauksen osoitettiin soveltuvan niin vastasyntyneiden kuin kantajien seulontaan.

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

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