1. Bruno JL, Garrett AS, Quintin EM, Mazaika PK, Reiss AL. {{Aberrant Face and Gaze Habituation in Fragile X Syndrome}}. {Am J Psychiatry};2014 (Jun 27)
Objective: The authors sought to investigate neural system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversion, among other social and cognitive deficits. Method: Participants (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25 individuals without fragile X syndrome (females, N=12) matched for general cognitive ability and autism symptoms. Functional MRI (fMRI) was used to assess brain activation during a gaze habituation task. Participants viewed repeated presentations of four unique faces with either direct or averted eye gaze and judged the direction of eye gaze. Results: Four participants (males, N=4/4; fragile X syndrome, N=3) were excluded because of excessive head motion during fMRI scanning. Behavioral performance did not differ between the groups. Less neural habituation (and significant sensitization) in the fragile X syndrome group was found in the cingulate gyrus, fusiform gyrus, and frontal cortex in response to all faces (direct and averted gaze). Left fusiform habituation in female participants was directly correlated with higher, more typical levels of the fragile X mental retardation protein and inversely correlated with autism symptoms. There was no evidence for differential habituation to direct gaze compared with averted gaze within or between groups. Conclusions: Impaired habituation and accentuated sensitization in response to face/eye gaze was distributed across multiple levels of neural processing. These results could help inform interventions, such as desensitization therapy, which may help patients with fragile X syndrome modulate anxiety and arousal associated with eye gaze, thereby improving social functioning.
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2. Deepmala, Agrawal M. {{Use of Propranolol for Hypersexual Behavior in an Adolescent With Autism: Case Report}}. {Ann Pharmacother};2014 (Jun 25)
OBJECTIVE: To report a case of an adolescent with autism with clinically significant hypersexual behaviors in whom a trial of low-dose propranolol led to major clinical improvement. CASE SUMMARY: This case report describes a 13-year-old boy with a history of autism who presented to the outpatient psychiatric clinic for hypersexual behaviors that started at the onset of puberty. The behaviors affected his functioning both at school and home. A trial of low-dose propranolol, 0.3 mg/kg/d (10 mg twice a day), targeting hypersexual behavior led to remarkable clinical improvement. The behaviors remained stable on this dose of propranolol for 1 year. DISCUSSION: Hypersexual behavior exhibited by adolescent patients with autism can be a big challenge to manage. The literature on pharmacological options to manage these behaviors in children and adolescents with autism is limited. Clinical data of propranolol use are novel. CONCLUSION: To our knowledge, this is the first case report of low-dose propranolol leading to clinically significant improvement in hypersexual behaviors in an adolescent with autism. Propranolol use may expand the choice of treatment option in this patient population.
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3. Gadow KD, Smith RM, Pinsonneault JK. {{Serotonin 2A Receptor Gene (HTR2A) Regulatory Variants: Possible Association with Severity of Depression Symptoms in Children with Autism Spectrum Disorder}}. {Cogn Behav Neurol};2014 (Jun);27(2):107-116.
OBJECTIVE AND BACKGROUND: Our aim was to characterize the association of 2 functional single nucleotide polymorphisms (rs6311 and rs6314) in the serotonin 2A receptor gene (HTR2A) with severity of depression symptoms in children with autism spectrum disorder. These polymorphisms have been shown to be associated with depression symptom severity and response to selective serotonin reuptake inhibitor drugs in adults with diagnosed depressive disorder. METHODS: Parents of 104 children with autism spectrum disorder rated their children’s depressive symptoms using a validated scale based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4th edition. We compared severity of depression symptoms across the rs6311 and rs6314 genotypes, measured from the children’s genomic DNA. RESULTS: Children homozygous for the G allele of rs6311 had significantly more severe depression symptoms than those with G/A or A/A genotypes (P=0.025). The effect size (partial eta-squared) was small (etap=0.047) but was somewhat larger when we controlled for severity of generalized anxiety disorder symptoms (P=0.006, etap=0.072). When we restricted our analyses to white participants, our results were essentially the same as for the entire sample (P=0.004, etap=0.086). There was no significant association between rs6314 (C/C versus T carriers) and severity of depression. CONCLUSIONS: Our findings suggest that the HTR2A functional rs6311 polymorphism, which other studies have associated with differential HTR2A mRNA expression, may modulate the severity of depression symptoms in children with autism spectrum disorder. These tentative, hypothesis-generating findings need replication with larger, independent samples.
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4. Germani T, Zwaigenbaum L, Bryson S, Brian J, Smith I, Roberts W, Szatmari P, Roncadin C, Sacrey LA, Garon N, Vaillancourt T. {{Brief Report: Assessment of Early Sensory Processing in Infants at High-Risk of Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Jun 27)
This study assessed sensory processing differences between 24-month infants at high-risk of autism spectrum disorder (ASD), each with an older sibling with ASD, and low-risk infants with no family history of ASD. Sensory processing differences were assessed using the Infant/Toddler Sensory Profile, a parent-reported measure. Groups were compared based on 3-year outcomes: (a) high-risk infants subsequently diagnosed with ASD; (b) high-risk infants without an ASD diagnosis; and (c) low-risk infants without an ASD diagnosis. Analyses showed that high-risk infants diagnosed with ASD have more difficulty with auditory processing (i.e., responses to auditory stimuli) and lower registration (i.e., lacking sensation awareness) compared to controls. Thus, behavioral responses to sensory input represent early risk markers of ASD, particularly in high-risk infants.
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5. Guo W, Tsujimura K, Otsuka IM, Irie K, Igarashi K, Nakashima K, Zhao X. {{VPA Alleviates Neurological Deficits and Restores Gene Expression in a Mouse Model of Rett Syndrome}}. {PLoS One};2014;9(6):e100215.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that occurs once in every 10,000-15,000 live female births. Despite intensive research, no effective cure is yet available. Valproic acid (VPA) has been used widely to treat mood disorder, epilepsy, and a growing number of other disorders. In limited clinical studies, VPA has also been used to control seizure in RTT patients with promising albeit somewhat unclear efficacy. In this study we tested the effect of VPA on the neurological symptoms of RTT and discovered that short-term VPA treatment during the symptomatic period could reduce neurological symptoms in RTT mice. We found that VPA restores the expression of a subset of genes in RTT mouse brains, and these genes clustered in neurological disease and developmental disorder networks. Our data suggest that VPA could be used as a drug to alleviate RTT symptoms.
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6. Koelkebeck K, Riedel A, Ohrmann P, Biscaldi M, Tebartz van Elst L. {{[High-functioning autism spectrum disorders in adulthood.]}}. {Nervenarzt};2014 (Jun 27)
The prevalence of autism spectrum disorders in the general population is approximately 1 %. Some individuals with high-functioning autism graduate from regular schools without autism having been diagnosed and problems only occur when the demands for social competence increase. Then patients often present with secondary psychiatric symptoms, such as depression, anxiety or interpersonal problems. At this time, typical autistic features, such as social interaction deficits, restricted interests and stereotypic behavior can be camouflaged by high compensatory skills, particularly in highly intelligent patients. Therefore, missed or wrong diagnoses are frequent. Interviews, questionnaires and neuropsychological tests might be used to support the diagnosis. In cases where there is evidence for a secondary cause of autistic symptoms, somatic disorders should be excluded. Pharmacological treatment should be symptom-oriented. Individualized psychotherapeutic approaches are becoming increasingly more available; however, pragmatic solutions often need to be deployed.
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7. Kyriakopoulos M, Stringaris A, Manolesou S, Radobuljac MD, Jacobs B, Reichenberg A, Stahl D, Simonoff E, Frangou S. {{Determination of psychosis-related clinical profiles in children with autism spectrum disorders using latent class analysis}}. {Eur Child Adolesc Psychiatry};2014 (Jun 26)
In children with autism spectrum disorders (ASD), high rates of idiosyncratic fears and anxiety reactions and thought disorder are thought to increase the risk of psychosis. The critical next step is to identify whether combinations of these symptoms can be used to categorise individual patients into ASD subclasses, and to test their relevance to psychosis. All patients with ASD (n = 84) admitted to a specialist national inpatient unit from 2003 to 2012 were rated for the presence or absence of impairment in affective regulation and anxiety (peculiar phobias, panic episodes, explosive reactions to anxiety), social deficits (social disinterest, avoidance or withdrawal and abnormal attachment) and thought disorder (disorganised or illogical thinking, bizarre fantasies, overvalued or delusional ideas). Latent class analysis of individual symptoms was conducted to identify ASD classes. External validation of these classes was performed using as a criterion the presence of hallucinations. Latent class analysis identified two distinct classes. Bizarre fears and anxiety reactions and thought disorder symptoms differentiated ASD patients into those with psychotic features (ASD-P: 51 %) and those without (ASD-NonP: 49 %). Hallucinations were present in 26 % of the ASD-P class but only 2.4 % of the ASD-NonP. Both the ASD-P and the ASD-NonP class benefited from inpatient treatment although inpatient stay was prolonged in the ASD-P class. This study provides the first empirically derived classification of ASD in relation to psychosis based on three underlying symptom dimensions, anxiety, social deficits and thought disorder. These results can be further developed by testing the reproducibility and prognostic value of the identified classes.
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8. McCain S, Tan S, Mark D. {{Management of a patient with autism following ingestion of a foreign body}}. {BMJ Case Rep};2014;2014
Patients with autism often find admission to hospital an anxious time. Awareness of the condition, a speedy diagnosis and flexibility in adapting treatment plans will facilitate early discharge and return to their familiar environment. We describe a patient with severe autism who presented with an acute abdomen secondary to ingestion of a foreign body which required laparotomy. Communication directly to medical staff was greatly limited due to severe autism and close liaison with family members was essential in interpreting scant clinical signs. At the time of surgery a rubber bottle teat was found causing transection of small bowel due to erosion of the foreign body. The postoperative course was fraught with challenges and ensuring side room nursing care with family members present throughout his admission minimised postoperative stress and confusion. We recommend awareness of management strategies for patients with autism to ensure rapid recovery and early discharge home.
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9. Neggers YH. {{Increasing prevalence, changes in diagnostic criteria, and nutritional risk factors for autism spectrum disorders}}. {ISRN Nutr};2014;2014:514026.
The frequency of autism spectrum disorders (ASD) diagnoses has been increasing for decades, but researchers cannot agree on whether the trend is a result of increased awareness, improved detection, expanding definition, or an actual increase in incidence or a combination of these factors. Though both genetic and multiple environmental risk factors have been studied extensively, many potentially modifiable risk factors including nutritional and immune function related risk factors such as vitamin D, folic acid, and metabolic syndrome have not received sufficient attention. Several recent studies have put forward hypotheses to explain the mechanism of association between both folic acid and vitamin D and autism. A continuous rise in the prevalence of autism in the USA has coincided with a significant enhancement of maternal folate status with FDA mandated folic acid fortification of certain foods starting in 1998. There is also a growing body of research that suggests that vitamin D status either in utero or early in life may be a risk for autism. In this communication, controversies regarding increase in estimate of prevalence, implications of changes in definition, and possible association between some modifiable nutritional risk factors such as folic acid and vitamin D and ASD will be discussed.
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10. Pacheva I, Panov G, Gillberg C, Neville B. {{A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during sleep, and with high-functioning autism and mutism}}. {Cogn Behav Neurol};2014 (Jun);27(2):88-95.
Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.
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11. Plumet MH, Veneziano E. {{Typical and Atypical Pragmatic Functioning of ASD Children and Their Partners: A Study of Oppositional Episodes in Everyday Interactions}}. {J Autism Dev Disord};2014 (Jun 27)
Pragmatic functioning of autism spectrum disorder (ASD) children is rarely examined in socially-meaningful contexts. This study investigates the way oppositional episodes are handled in such contexts by 25 families, 10 with ASD and 15 with typically-developing children. Oppositions occur whenever someone protests, refuses or denies someone else’s action, request or statement. The analysis focuses on justifications accounting for the opposition and on their immediate persuasive effect. Analyses of 1,065 oppositional episodes show no differences in justifications among partners and children, except for ASD children with a verbal age 3-4 years, who justify less than their matched controls. The persuasive effect of justifications on children and on partners differs according to their group and verbal age. Implications of the study and future perspectives are discussed.
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12. Reilly C, Senior J, Murtalgh L. {{ASD, ADHD, mental health conditions and psychopharmacology in neurogenetic syndromes: parent survey}}. {J Intellect Disabil Res};2014 (Jun 25)
BACKGROUND: There are a number of neurogenetic syndromes with well described behavioural phenotypes including fragile X syndrome, Prader-Willi syndrome, Williams syndrome and velo-cardio-facial syndrome (VCFS). Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and psychiatric conditions are often associated with the syndromes. METHOD: Parents (n = 381) of school-aged children with one of the four syndromes in the UK and Ireland were asked whether their child had been professionally diagnosed with ASD, ADHD or a mental health condition. Parents were also asked whether their child had been prescribed medication for behavioural or psychiatric reasons. RESULTS: The highest level of reported diagnoses of ASD and ADHD was in fragile X syndrome. In all syndrome groups, lower rates of diagnosis were reported in comparison to previously published research. Prescribing of medication for behavioural/psychiatric reasons was highest in fragile X syndrome although the highest usage of melatonin was in Williams syndrome. CONCLUSION: Reasons for a lower recognition of ASD, ADHD and mental health conditions in clinical practice compared with research studies may include ‘diagnostic overshadowing’ due to presence of intellectual disability and a genetic syndrome. However, there may also be a lack of belief in the utility of such diagnoses in neurogenetic syndromes among relevant professionals and/or lack of access to professionals with sufficient expertise in the recognition of such diagnoses in those with neurogenetic syndromes. The low rates of prescribing of medication for behavioural/psychiatric reasons may reflect the low level of clinical diagnoses or lack of belief in the utility of psychopharmacology in this population.
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13. Risch N, Hoffmann TJ, Anderson M, Croen LA, Grether JK, Windham GC. {{Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions}}. {Am J Psychiatry};2014 (Jun 27)
Objective: This study was designed to examine the pattern of familial recurrence of autism spectrum disorder (ASD) in terms of genetic and environmental contributions related to timing of birth. Method: The authors linked California Department of Developmental Services records with state birth certificates to identify all siblings and half siblings of individuals affected with ASD born between 1990 and 2003. A total of 6,616 full siblings, 644 maternal half siblings, and 299 paternal half siblings born after ASD index cases were used to calculate recurrence risks. Control families, identified through matching to cases, were included for comparison (a total of 29,384 siblings). Results: The overall sibling recurrence risk was 10.1%, compared with a prevalence of 0.52% in siblings of controls. The recurrence risk in second-born children was higher (11.5%) than in later-born siblings (7.3%); a similar pattern was observed for maternal half siblings (6.5% for second-born compared with 3.0% for later-born siblings; 4.8% overall). The recurrence risk was significantly higher for siblings who immediately followed the index case in birth order compared with those later in birth order. The recurrence risk for paternal half siblings (2.3%) was half the overall recurrence risk for maternal half siblings but was similar to that for later-born maternal half siblings. An exponential effect of short interbirth interval was observed, with the recurrence risk reaching 14.4% for an interbirth interval of 18 months or less, compared with 6.8% for an interval of 4 years or more. An identical phenomenon was observed in maternal half siblings. Conclusions: The results support genetic susceptibility in the familial recurrence of ASD along with factors related to timing of birth.
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14. Schwenck C, Freitag CM. {{Differentiation between attention-deficit/hyperactivity disorder and autism spectrum disorder by the Social Communication Questionnaire}}. {Atten Defic Hyperact Disord};2014 (Jun 26)
The differentiation of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) poses a clinical challenge. In children, overlap of psychopathological and cognitive findings has been found for both disorders. In addition, some children suffer from both disorders. The Social Communication Questionnaire (SCQ) is a screening instrument for ASD symptoms which indicates the presence of ASD in a rapid and economic way. However, validity to differentiate ASD and ADHD as differential or comorbid diagnoses has not been studied. Here, the differential validity was compared in groups of children with ASD, ADHD, ASD + ADHD, and typically developing (TD) children and IQ > 70. ROC analyses indicated an excellent differentiation between ASD and TD with ROC-AUC = .941 and between ASD + ADHD with ROC-AUC = .993. The optimal cutoff was below the originally recommended one of 15. The differentiation between children with ASD with (ROC-AUC = .982) or without ADHD (ROC-AUC = .864) and ADHD alone also showed acceptable differential validity, and here, the optimal cutoff corresponded to the recommended. Taken together, the SCQ can be recommended as a screening instrument for a first differentiation between children with ASD and typically developing children as well as children with ADHD.
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15. Varella AA, de Souza DG. {{Emergence of auditory-visual relations from a visual-visual baseline with auditory-specific consequences in individuals with autism}}. {J Exp Anal Behav};2014 (Jun 25)
Empirical studies have demonstrated that class-specific contingencies may engender stimulus-reinforcer relations. In these studies, crossmodal relations emerged when crossmodal relations comprised the baseline, and intramodal relations emerged when intramodal relations were taught during baseline. This study investigated whether auditory-visual relations (crossmodal) would emerge after participants learned a visual-visual baseline (intramodal) with auditory stimuli presented as specific consequences. Four individuals with autism learned AB and CD relations with class-specific reinforcers. When A1 and C1 were presented as samples, the selections of B1 and D1, respectively, were followed by an edible (R1) and a sound (S1). Selections of B2 and D2 under the control of A2 and C2, respectively, were followed by R2 and S2. Probe trials tested for visual-visual AC, CA, AD, DA, BC, CB, BD, and DB emergent relations and auditory-visual SA, SB, SC, and SD emergent relations. All of the participants demonstrated the emergence of all auditory-visual relations, and three of four participants showed emergence of all visual-visual relations. Thus, the emergence of auditory-visual relations from specific auditory consequences suggests that these relations do not depend on crossmodal baseline training. The procedure has great potential for applied technology to generate auditory-visual discriminations and stimulus classes in the context of behavior-analytic interventions for autism.
