1. Al-Sarraj Y, Al-Khair HA, Taha RZ, Khattab N, El Sayed ZH, Elhusein B, El-Shanti H. {{Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features}}. {Clin Case Rep}. 2014; 2(5): 201-5.
KEY CLINICAL MESSAGE: We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.
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2. Anna C, Edyta SS, Jolanta W, Ewa F, Barbara C, Malgorzata MD, Tomasz C, Marta B, Elzbieta K. {{Influence of candidate polymorphisms on the dipeptidyl peptidase IV and mu-opioid receptor genes expression in aspect of the beta-casomorphin-7 modulation functions in autism}}. {Peptides}. 2015.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with population prevalence of approximately 60 – 70 per 10 000. Data shows that both opioid system function enhancement and opiate administration can result in autistic-like symptoms. Cow milk opioid peptides, including beta-casomorphin-7 (BCM7, Tyr-Pro-Phe-Pro-Gly-Pro-Ile), effect the mu-opioid receptor (MOR) and are subjected to degradation resulting from the proline dipeptidyl peptidase IV (DPPIV, EC 3.4.14.5) enzyme activity. The presence of MOR and DPPIV activity are crucial factors determining biological activity of BCM7 in the human body. Our study examined the effect of beta-casomorphin-7 on the MOR and DPPIV genes expression according to specific point mutations in these genes. In addition, we investigated frequency of A118G SNP in the MOR gene and rs7608798 of the DPPIV (A/G) gene in healthy and autistic children. Our research indicated correlation in DPPIV gene expression under the influence of BCM7 and hydrolyzed milk between healthy and ASD-affected children with genotype GG (p<0.0001). We also observed increased MOR gene expression in healthy children with genotype AG at polymorphic site A118G under influence of BCM7 and hydrolyzed milk. The G allele frequency was 0.09 in MOR gene and 0.68 in the DPPIV gene. But our results suggest no association between presence of the alleles G and A at position rs7608798 in DPPIV gene nor alleles A and G at position A118G of the MOR and increased incidence of ASD. Our studies emphasize the compulsion for genetic analysis in correlation with genetic factors affecting development and enhancement of autism symptoms.
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3. Ashwood KL, Tye C, Azadi B, Cartwright S, Asherson P, Bolton P. {{Brief Report: Adaptive Functioning in Children with ASD, ADHD and ASD + ADHD}}. {J Autism Dev Disord}. 2015.
Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) often co-occur. Children with ASD and ADHD demonstrate deficits in adaptive functioning, yet pure and comorbid groups have not been directly compared. Vineland Adaptive Behaviour Scales (VABS-II) data were examined in boys with ASD (n = 17), ADHD (n = 31) and ASD + ADHD (n = 38). Results demonstrated lower socialisation and composite scores and greater discrepancy between cognitive and adaptive abilities in the ASD + ADHD group compared to the ADHD-only group. Significant associations were shown between reduced adaptive functioning and autism symptoms, but not ADHD symptoms. Children with ASD + ADHD present with exacerbated impairments in adaptive functioning relative to children with ADHD, associated with ASD symptoms. Disentangling variation in adaptive skills may aid the assessment of complex cases.
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4. Chen JA, Penagarikano O, Belgard TG, Swarup V, Geschwind DH. {{The emerging picture of autism spectrum disorder: genetics and pathology}}. {Annu Rev Pathol}. 2015; 10: 111-44.
Autism spectrum disorder (ASD) is defined by impaired social interaction and communication accompanied by stereotyped behaviors and restricted interests. Although ASD is common, its genetic and clinical features are highly heterogeneous. A number of recent breakthroughs have dramatically advanced our understanding of ASD from the standpoint of human genetics and neuropathology. These studies highlight the period of fetal development and the processes of chromatin structure, synaptic function, and neuron-glial signaling. The initial efforts to systematically integrate findings of multiple levels of genomic data and studies of mouse models have yielded new clues regarding ASD pathophysiology. This early work points to an emerging convergence of disease mechanisms in this complex and etiologically heterogeneous disorder.
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5. Deacon RM, Glass L, Snape M, Hurley MJ, Altimiras FJ, Biekofsky RR, Cogram P. {{NNZ-2566, a Novel Analog of (1-3) IGF-1, as a Potential Therapeutic Agent for Fragile X Syndrome}}. {Neuromolecular Med}. 2015.
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. Previous studies have implicated mGlu5 in the pathogenesis of the disease, and many agents that target the underlying pathophysiology of FXS have focused on mGluR5 modulation. In the present work, a novel pharmacological approach for FXS is investigated. NNZ-2566, a synthetic analog of a naturally occurring neurotrophic peptide derived from insulin-like growth factor-1 (IGF-1), was administered to fmr1 knockout mice correcting learning and memory deficits, abnormal hyperactivity and social interaction, normalizing aberrant dendritic spine density, overactive ERK and Akt signaling, and macroorchidism. Altogether, our results indicate a unique disease-modifying potential for NNZ-2566 in FXS. Most importantly, the present data implicate the IGF-1 molecular pathway in the pathogenesis of FXS. A clinical trial is under way to ascertain whether these findings translate into clinical effects in FXS patients.
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6. Erickson SR, LeRoy B. {{Health literacy and medication administration performance by caregivers of adults with developmental disabilities}}. {J Am Pharm Assoc (2003)}. 2015: e52-e60.
Objectives: To measure health literacy (HL) of caregivers of adults with intellectual/developmental disabilities (IDDs); to determine the association between HL and a medication administration task (MAT) assessment; and to identify caregiver characteristics associated with higher HL and MAT scores. Design: Cross-sectional study. Setting: Southeastern Michigan. Participants: Caregivers, aged 18 years or older, who provided supportive care of adults with IDDs. Interventions: Survey and demonstration. Main Outcome Measures: Short Test of Functional Health Literacy in Adults (STOFHLA); a MAT assessment consisting of interpretation of five sets of medication instructions followed by demonstration of understanding using a pill box; and a survey of caregivers’ demographics, medication-related experiences, education, characteristics of persons for whom they provide care, and care-related activities performed. Results: A total of 47 caregivers provided data. Caregivers had a mean age of 45.7 +/- 14.6 years; 41 (87.2%) were women and 38 (80.9%) had education beyond high school. Caregivers were involved in obtaining medication from pharmacies, reminded the person with IDD to take medications and/or administered them to the person, documented medication and health information, and accompanied persons with IDD to physician offices. Most did not conduct monitoring procedures. The STOFHLA mean score was 34.5 +/- 2.5 (median, 35; range, 22-36), while the MAT mean score was 12.0 +/- 2.2 (median, 12; range, 6-15). Compared with family caregivers, direct support staff more frequently had undergone some medication training and had other people with whom they could discuss medication questions, but they had worked with the person with IDD a significantly shorter amount of time. No significant differences in STOFHLA and MAT scores between the family caregivers and direct support staff were observed. Caregiver education was significantly correlated with the STOFHLA score. MAT scores were not significantly correlated with caregiver characteristics. Conclusion: Caregivers are involved in the medication use process for people who have IDD. Ensuring caregiver understanding of medication regimens and/or improving medication-related HL may be an important step to ensure safe and effective use of medications by people with IDD.
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7. Grossman RB, Steinhart E, Mitchell T, McIlvane W. {{« Look who’s talking! » Gaze Patterns for Implicit and Explicit Audio-Visual Speech Synchrony Detection in Children With High-Functioning Autism}}. {Autism Res}. 2015.
Conversation requires integration of information from faces and voices to fully understand the speaker’s message. To detect auditory-visual asynchrony of speech, listeners must integrate visual movements of the face, particularly the mouth, with auditory speech information. Individuals with autism spectrum disorder may be less successful at such multisensory integration, despite their demonstrated preference for looking at the mouth region of a speaker. We showed participants (individuals with and without high-functioning autism (HFA) aged 8-19) a split-screen video of two identical individuals speaking side by side. Only one of the speakers was in synchrony with the corresponding audio track and synchrony switched between the two speakers every few seconds. Participants were asked to watch the video without further instructions (implicit condition) or to specifically watch the in-synch speaker (explicit condition). We recorded which part of the screen and face their eyes targeted. Both groups looked at the in-synch video significantly more with explicit instructions. However, participants with HFA looked at the in-synch video less than typically developing (TD) peers and did not increase their gaze time as much as TD participants in the explicit task. Importantly, the HFA group looked significantly less at the mouth than their TD peers, and significantly more at non-face regions of the image. There were no between-group differences for eye-directed gaze. Overall, individuals with HFA spend less time looking at the crucially important mouth region of the face during auditory-visual speech integration, which is maladaptive gaze behavior for this type of task. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Karmaniolou I, Krishnan R, Galtrey E, Cleland S, Vijayaraghavan R. {{Perioperative management and outcome of patients with Rett syndrome undergoing scoliosis surgery: a retrospective review}}. {J Anesth}. 2015.
BACKGROUND: Rett syndrome is a rare genetically inherited neuromuscular disorder exclusively affecting female patients. Progressive scoliosis is one of the main features of the disease and affected individuals are very likely to need spine correction surgery. METHODS: We undertook a retrospective notes review of patients with Rett syndrome who had undergone spine surgery from 2005 to 2013. Patients were identified through the hospital’s electronic records. The aim of the present study was to identify the anesthetic implications encountered and the perioperative adverse events, in an effort to improve perioperative management and reduce complications. RESULT: We identified twenty-four children who had 29 procedures in total in this period. Frequent chest infections and poorly controlled epilepsy were the main preoperative findings. There were no adverse events during induction and intubation. Common anesthetic/analgesic drugs were used throughout. Postoperatively, gastrointestinal and respiratory tract complications were the most common. Mean intensive care unit stay was 8.1 days and mean time to discharge from hospital was 26.5 days. We had one in-hospital death. CONCLUSIONS: Our case series demonstrates a high incidence of complications in this subpopulation, mainly postoperative. Extreme postoperative vigilance is required and recovery in a high dependency unit is highly recommended.
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9. Liew Z, Ritz B, von Ehrenstein OS, Bech BH, Nohr EA, Fei C, Bossi R, Henriksen TB, Bonefeld-Jorgensen EC, Olsen J. {{Attention Deficit/Hyperactivity Disorder and Childhood Autism in Association with Prenatal Exposure to Perfluoroalkyl Substances: A Nested Case-Control Study in the Danish National Birth Cohort}}. {Environ Health Perspect}. 2014.
BACKGROUND: Perfluoroalkyl substances (PFASs) are persistent pollutants found to be endocrine disruptive and neurotoxic in animals. Positive correlations between PFASs and neurobehavioral problems in children were reported in cross-sectional data, but findings from prospective studies are limited. OBJECTIVES: We investigated whether prenatal exposure to PFASs is associated with attention deficit/hyperactivity disorder (ADHD) or childhood autism in children. METHODS: Among 83,389 mother-child pairs enrolled in the Danish National Birth Cohort during 1996-2002, we identified 890 ADHD cases and 301 childhood autism cases from the Danish National Hospital Registry and the Danish Psychiatric Central Registry. From this cohort, we randomly selected 220 cases of ADHD and autism each, and we also randomly selected 550 controls frequency matched by child’s sex. Sixteen PFASs were measured in maternal plasma collected in early or mid-pregnancy. We calculated risk ratios (RR) using generalized linear models taking into account sampling weights. RESULTS: Perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA) were detected in all samples; 4 other PFASs were quantified in >/= 90% of the samples. We did not find consistent evidence of associations between mother’s PFAS plasma levels and ADHD (per ln-ng/ml increase: PFOS RR = 0.87; 95%CI: 0.74, 1.02; PFOA RR = 0.98; 95%CI: 0.82, 1.16) or autism (per ln-ng/ml increase: PFOS RR = 0.92; 95%CI: 0.69, 1.22; PFOA RR = 0.98; 95%CI: 0.73, 1.31). We found positive as well as negative associations between higher PFAS quartiles and ADHD in models that simultaneously adjusted for all PFASs, but these estimates were imprecise. CONCLUSIONS: In this study we found no evidence to suggest that prenatal PFAS exposure increases the risk of ADHD or childhood autism in children.
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10. Nowell KP, Schanding GT, Jr., Kanne SM, Goin-Kochel RP. {{Cognitive Profiles in Youth with Autism Spectrum Disorder: An Investigation of Base Rate Discrepancies using the Differential Ability Scales-Second Edition}}. {J Autism Dev Disord}. 2015.
Extant data suggest that the cognitive profiles of individuals with ASD may be characterized by variability, particularly in terms of verbal intellectual functioning (VIQ) and non-verbal intellectual functioning (NVIQ) discrepancies. The Differential Ability Scales, Second Edition (DAS-II) has limited data available on its use with youth with ASD. The current study examined data from 2,110 youth with ASD in order to characterize performance on the DAS-II and to investigate potential discrepancies between VIQ and NVIQ. A larger proportion of individuals in the ASD sample had significant discrepancies between VIQ and NVIQ when compared to the normative sample [early years sample chi2 (2) = 38.36; p < .001; school age sample chi2 (2) = 13.48; p < .01]. Clinical and research implications are discussed.
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11. Patten E, Watson LR, Baranek GT. {{Temporal Synchrony Detection and Associations with Language in Young Children with ASD}}. {Autism Res Treat}. 2014; 2014: 678346.
Temporally synchronous audio-visual stimuli serve to recruit attention and enhance learning, including language learning in infants. Although few studies have examined this effect on children with autism, it appears that the ability to detect temporal synchrony between auditory and visual stimuli may be impaired, particularly given social-linguistic stimuli delivered via oral movement and spoken language pairings. However, children with autism can detect audio-visual synchrony given nonsocial stimuli (objects dropping and their corresponding sounds). We tested whether preschool children with autism could detect audio-visual synchrony given video recordings of linguistic stimuli paired with movement of related toys in the absence of faces. As a group, children with autism demonstrated the ability to detect audio-visual synchrony. Further, the amount of time they attended to the synchronous condition was positively correlated with receptive language. Findings suggest that object manipulations may enhance multisensory processing in linguistic contexts. Moreover, associations between synchrony detection and language development suggest that better processing of multisensory stimuli may guide and direct attention to communicative events thus enhancing linguistic development.
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12. Selim ME, Abd-Elhakim YM, Al-Ayadhi LY. {{Pancreatic response to gold nanoparticles includes decrease of oxidative stress and inflammation in autistic diabetic model}}. {Cell Physiol Biochem}. 2015; 35(2): 586-600.
BACKGROUND: Gold nanoparticles (AuNPs) have a wide range of applications in various fields. This study provides an understanding of the modulatory effects of AuNPs on an antioxidant system in male Wistar diabetic rats with autism spectrum disorder (ASD). Normal littermates fed by control mothers were injected with citrate buffer alone and served as normal, untreated controls controlin this study. Diabetes mellitus (DM) was induced by administering a single intraperitoneal injection of streptozotocin (STZ) (100 mg/kg) to the pups of (ND) diabetic group, which had been fasted overnight. Autistic pups from mothers that had received a single intraperitoneal injection of 600 mg/kg sodium valproate on day 12.5 after conception were randomly divided into 2 groups (n 2 7/group) as follow; administering single intraperitoneal injection of streptozotocin (STZ) ( (100 mg/kg) to the overnight fasted autistic pups of (AD) autistic diabetic group. The treatment was started on the 5th day after STZ injection with the same dose as in group II and it was considered as 1st day of treatment with gold nanoparticles for 7 days to each rat of (group IV) treated autistic diabetic group(TAD) at a dosage of 2.5 mg/kg. b. wt. RESULTS: At this dose of administration AuNPs, the activities of hepatic superoxide dismutase (SOD), glutathione peroxidase (GPx), and catalase were greater in group TAD compared with the control group (P < 0.05). Oxidised glutathione levels were lower (P > 0.05) in the liver of autistic diabetic AuNPs -supplemented rats, whereas reduced glutathione was markedly higher than in control rats, especially after administration of AuNPs. Moreover, the kidney functions in addition to the fat profile scoring supported the protective potential of that dose of AuNPs. The beta cells revealed euchromatic nuclei with no evidence of separation of nuclear membrane. CONCLUSIONS: Our results showed that AuNPs improved many of the oxidative stress parameters (SOD, GPx and, CAT), plasma antioxidant capacity (ORAC) and lipid profile relative to the other parameters. In addition to the apparent reversibility of the pancreatic B cell in group IV which may reflect the regenerative capacity of AuNPs. (c) 2015 S. Karger AG, Basel.
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13. Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G. {{Thyroid Function in Rett Syndrome}}. {Horm Res Paediatr}. 2015: 118-25.
Introduction: Thyroid function in Rett syndrome (RTT) has rarely been studied with unanimous results. However, this aspect is of great concern regarding the effect thyroid hormones (TH) have on proper mammalian brain development. Objective: To evaluate the prevalence of abnormalities of thyroid function in a cohort of children with RTT. Patients and Methods: Forty-five consecutive Caucasian girls (mean age: 8.6 +/- 5.3 years, range: 2.0-26.1) meeting the clinical criteria for RTT were recruited. In all of the subjects, we evaluated the serum concentrations of free-T3 (FT3), free-T4 (FT4), thyroid-stimulating hormone (TSH), thyroperoxidase autoantibodies, thyroglobulin autoantibodies (TgA), and TSH receptor (TSHr) autoantibodies. The results were compared with a group of 146 age-matched healthy Caucasian children and adolescent girls (median age: 9.5 years, range: 1.8-14.6) from the same geographical area. Results: Mean FT3 and TSH levels were not significantly different between the RTT patients and controls. Nevertheless, FT4 levels were significantly higher in RTT patients than in controls (p < 0.005). In particular, 17.7% showed FT4 levels higher than the upper reference limit (vs. 0.7% of controls, p < 0.0001), whereas 12 patients (26.7%) showed higher FT3 levels than the upper reference limit, significantly differing in respect to controls (2.0%, p < 0.0001). Finally, 5 patients (11.1%) showed higher levels of TSH, statistically differing from the control subjects (2.0%, p < 0.0001). However, evaluating the patients on the basis of different RTT genotype subgroups, patients with CDKL5 deletions showed significantly higher FT4 values than patients with MeCP2 deletions (p < 0.05). On the other hand, patients with other types of MeCP2 mutations also showed FT4 levels significantly higher than patients with MeCP2 deletions (p < 0.05). In fact, out of 8 patients with FT4 levels higher than the upper references limit, 3 of them presented with CDKL5 deletions (3 patients, 37.5%), 4 (50%) had MeCP2 mutations, and 1 (12.5%) belonged to the subgroup of MeCP2 deletions. However, when analyzing FT3 levels of the 12 patients showing higher FT3 levels than the upper references limit, 6 (50%) belonged to the subgroup with MeCP2 mutations, 4 (33.3%) to the subgroup with MeCP2 deletions, and 2 (16.7%) to the subgroups with CDKL5 deletions. Furthermore, no patient with RTT was positive for antithyroglobulin autoantibodies, antithyroid peroxidase, or anti-TSHr, with no statistical differences in respect to the controls. L-thyroxine treatment was not necessary for any patient. Conclusions: Abnormalities of thyroid function are not rare in RTT. The possible relationship between these disorders and the RTT phenotype should be confirmed and studied. Children with RTT should be screened for potential thyroid dysfunction. (c) 2015 S. Karger AG, Basel.
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14. Vesterby TS, Thelle TH. {{[A late debut of childhood disintegrative disorder.]}}. {Ugeskr Laeger}. 2015; 177(3).
Actualized by the ongoing discussion of whether childhood disintegrative disorder is a diagnostic entity, we describe a case which in every aspect fulfils the ICD-10 criteria. A girl with a previous normal development who, from the age of 60 months, experienced a regression during 2-3 months with significant co-morbid psychiatric symptoms, leaving her in a state of mental retardation and autism. A thorough somatic assessment was normal. The importance of recognition of the condition and an integrated child psychiatric and paediatric assessment is emphasized.
