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PubMed2006

Reduced plasma apelin levels in patients with autistic spectrum disorder.

BACKGROUND: Dysregulation of the vasopressin (AVP) system has been implicated in the pathogenesis of autistic spectrum disorder (ASD). Apelin is a recently discovered neuropeptide that could counteract AVP actions and whose receptors are colocalized with vasopressin in hypothalamic magnocellular neurons. Aims of the present study were to investigate circulating levels of apelin in patients with ASD and to assess their correlation with plasma AVP concentrations. METHODS: Plasma levels of apelin and AVP were measured in a total of 18 patients with ASD and 21 age- and gender-matched healthy comparison subjects. The Childhood Autism Rating Scale (CARS) was used to assess the severity of autistic symptoms. RESULTS: Significantly reduced levels of apelin (p < 0.001) and elevated concentrations of AVP (p = 0.02) were found in ASD patients as compared to controls. Additionally, a significant inverse correlation between apelin and AVP levels was found within the ASD group (r = -0.61; p = 0.007), but not in healthy participants (r = -0.26; p = 0.25). Multivariate linear regression analysis showed that only AVP concentrations independently predicted apelin values in ASD individuals (beta = -0.42, t = 2.63, p = 0.014). No correlation was seen between apelin levels and CARS scores (r = -0.10; p = 0.68). CONCLUSIONS: Our findings of a significantly reduced peripheral level of apelin coupled with elevated AVP point to a subtle but definite vasopressinergic dysfunction in autism that could play a role in the etiopathophysiology of this disorder in humans.

Adolescent↗

PubMed2004

Enhanced APOE2 transmission rates in families with autistic probands.

We have previously described linkage/association between reelin gene polymorphisms and autistic disorder. APOE also participates in the Reelin signaling pathway, by competitively antagonizing Reelin binding to APOE receptor 2 and to very-low-density lipoprotein receptors. The APOE2 protein variant displays the lowest receptor binding affinity compared with APOE3 and APOE4. In this study, we assess linkage/association between primary autism and APOE alleles in 223 complete trios, from 119 simplex Italian families and 44 simplex and 29 multiplex Caucasian-American families. Statistically significant disequilibrium favors the transmission of epsilon2 alleles to autistic offspring, over epsilon3 and epsilon4 (allele-wise transmission/disequilibrium test [TDT], chi2 = 6.16, 2 degrees of freedom [d.f.], P<0.05; genotype-wise TDT, chi2 = 10.68, 3 d.f., P<0.05). A novel epsilon3r allele was also discovered in an autistic child and his mother. Autistic patients do not differ significantly from unaffected siblings (allele-wise TDT comparing autistic patients versus unaffected sibs, chi2 = 1.83, 2 d.f., P<0.40, not significant). The major limitation of this study consists of our small sample size of trios including one unaffected sibling, currently not possessing the statistical power necessary to conclusively discriminate a specific association of epsilon2 with autism, from a distorted segregation pattern characterized by enhanced epsilon2 transmission rates both to affected and unaffected offspring. Our findings are thus compatible with either (a) pathogenetic contributions by epsilon2 alleles to autism spectrum vulnerability, requiring additional environmental and/or genetic factors to yield an autistic syndrome, and/or (b) a protective effect of epsilon2 alleles against the enhanced risk of miscarriage and infertility previously described among parents of autistic children.

Apolipoprotein E2↗

PubMed1992

Autistic disorder: a neuropsychological enigma.

Autism is increasingly viewed as an expression of an unidentified neurological disorder. Because understanding of neurological dysfunction is basic to evaluation and treatment in occupational therapy, this article provides a comprehensive and critical review of the literature since 1985 concerning the neuropsychology of autistic disorder. The research is categorized into four basic types: (a) neuropsychological testing of functional abilities, (b) treatment studies based on neuropsychological hypotheses, (c) autistic-related diseases and genetic disorders, and (d) neuroanatomical and neurophysiological studies. The research shows a spectrum of neurological impairments within the brain stem, cerebellum, midbrain, and frontal lobe. These impairments are associated with deficits in socioemotional skills, sensory processing, motor planning, and cognitive flexibility. This research suggests that persons with autistic disorder need evaluation and treatment of a wide spectrum of functional deficits.

Autistic Disorder↗

PubMed2004

[Early development: some data about autism and language disorders].

INTRODUCTION: The early development of children who have been diagnosed as suffering from autism and children with specific language disorder (SLD) is still an area of research that receives little attention. There is a need for descriptive patterns of the early stages in the development of the two groups that foster the formation of reliable early diagnoses. Aims. In this study we attempt to determine the incidence of different symptoms in the first two years in the life of children who were later diagnosed as suffering from autism or SLD and to confirm or refute the data that suggests a pattern of onset of the disorder that differs from one group to the other. PATIENTS AND METHODS: We compare the data concerning the development of a sample made up of 42 children with autism and 41 children with SLD, which was carried out by means of a retrospective analysis of the information obtained from the families in the evaluation and diagnosis processes that were conducted in our centre. More specifically, we compare information about the following variables: family history, parents' age at the time of pregnancy, parents' profession, position at birth and incidence by sex, information about prenatal, perinatal and postnatal aspects, eating and sleeping problems, the presence or absence of signs of passivity, traces of alarm during the first year, age of the child when the first suspicions appeared, symptoms or difficulties that are described, data linked to medical neurological explorations carried out and data related to motor development. RESULTS: Although there are numerous similarities in many of the variables studied in both groups, it seems that the earlier onset of symptoms, passivity and the absence of pointing behaviour are more frequent in the group with autism than in children with SLD. The latter present a specific difficulty in language, tantrums and poorer motor competencies. CONCLUSIONS: At present there is no single symptom in early development that is exclusive to any of the disorders described above, although it is possible to determine some significant differences between the two groups. There is also a need to conduct more studies in the same line as this one that take into account the patterns of early development of other the autistic spectrum disorders.

Attention↗

PubMedDate not supplied

[Autism in tuberous sclerosis].

During the last five years, it has been recognized a very high incidence of autism in children affected by tuberous sclerosis; we believe that this association may be more than just a coincidence and that it may be that the autistic behavior spectrum is related to a great extent, to the anatomic localization of tubers in the frontal and temporoparietal areas. In this study we report our experience with 27 consecutive children, 12 boys and 15 girls with a diagnosis of tuberous sclerosis confirmed by clinical and MRI and or CT findings according to the diagnostic criteria developed by the Diagnosis Criteria Committee of the National Tuberous Sclerosis Association. They were studied during the period of 1988 to 1990. Ages range from 18 months to 16 years (mean: 6.5 years). Twenty-four had epilepsy and were receiving antiepileptic treatment. Seven of the 27 children (25.9 per cent) fulfilled the diagnostic criteria for autistic disorder according to the DSM-III-R. The autistic behavior was evident in all of them by three and half years. The seven children had mental retardation. MRI and CT findings with subependymal calcifications and cortical tubers of frontal and temporoparietal predominance were seen in five of the seven autistic children. In one child, CT was normal and in the other it was not performed. Five were girls and all had West syndrome; two were boys and neither had seizures. Most of the reported cases of children with tuberous sclerosis and autism had experiences West syndrome. In our patients, five of the seven children with autism had west syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed2000

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, language impairment, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors. In a recent study of 28 subjects, 14 subjects (50%) with SLOS also exhibited the behavior of throwing themselves backward in a characteristic upper body movement ("opisthokinesis") and 2 adolescents had a stretching motion of the upper body accompanied by hand flicking [Tierney et al., 1999]. In that same study, 6 of 13 subjects (46%) met the Autism Diagnostic Interview-Revised (ADI-R) algorithm criteria (Lord et al. [1993] Infant Mental Health 14:234-252; Lord et al. [1994] J Autism Dev Disord 24:659-685) and the Diagnostic and Statistical Manual (APA [1994] DSM-IV) diagnostic criteria for autistic disorder. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. MRDD Research Reviews 2000;6:131-134.

Algorithms↗

PubMedDate not supplied

Classical eyeblink conditioning: clinical models and applications.

In this paper, we argue that the main reason that classical eyeblink conditioning has proven so useful when applied to clinical situations, is that a great deal of information is known about the behavioral and neural correlates of this form of associative learning. Presented here is a summary of three lines of research that have used classical eyeblink conditioning to study three different clinical conditions; autism, fetal alcohol syndrome, and obsessive-compulsive disorder. While seemingly very different clinical conditions, classical eyeblink conditioning has proven very useful for advancing our understanding of these clinical pathologies and the neural conditions that may underlie them.

Animals↗

PubMed2006

Insomnia in school-age children with Asperger syndrome or high-functioning autism.

BACKGROUND: Asperger syndrome (AS) and high-functioning autism (HFA) are pervasive developmental disorders (PDD) in individuals of normal intelligence. Childhood AS/HFA is considered to be often associated with disturbed sleep, in particular with difficulties initiating and/or maintaining sleep (insomnia). However, studies about the topic are still scarce. The present study investigated childhood AS/HFA regarding a wide range of parent reported sleep-wake behaviour, with a particular focus on insomnia. METHODS: Thirty-two 8-12 yr old children with AS/HFA were compared with 32 age and gender matched typically developing children regarding sleep and associated behavioural characteristics. Several aspects of sleep-wake behaviour including insomnia were surveyed using a structured paediatric sleep questionnaire in which parents reported their children's sleep patterns for the previous six months. Recent sleep patterns were monitored by use of a one-week sleep diary and actigraphy. Behavioural characteristics were surveyed by use of information gleaned from parent and teacher-ratings in the High-Functioning Autism Spectrum Screening Questionnaire, and in the Strengths and Difficulties Questionnaire. RESULTS: Parent-reported difficulties initiating sleep and daytime sleepiness were more common in children with AS/HFA than in controls, and 10/32 children with AS/HFA (31.2%) but none of the controls fulfilled our definition of paediatric insomnia. The parent-reported insomnia corresponded to the findings obtained by actigraphy. Children with insomnia had also more parent-reported autistic and emotional symptoms, and more teacher-reported emotional and hyperactivity symptoms than those children without insomnia. CONCLUSION: Parental reports indicate that in childhood AS/HFA insomnia is a common and distressing symptom which is frequently associated with coexistent behaviour problems. Identification and treatment of sleep problems need to be a routine part of the treatment plan for children with AS/HFA.

Affective Symptoms↗

PubMed2001

Anterior insular cortex: linking intestinal pathology and brain function in autism-spectrum subgroups.

Autism includes deficits in communications skills and is associated with intestinal pathology. Numerous parents and some physicians report that an autistic child's attention and language improve in response to treatments which eliminate certain dietary antigens and/or which improve intestinal health. For at least some autism-spectrum children, the link between intestinal pathology, attention, and language may derive from shared neuroanatomic pathways within the anterior insular cortex (aIC); from a neurotrophic virus such as herpes simplex (HSV) migrating within afferents to the insular cortex; and/or from synaptic exhaustion in the aIC as induced by chronically inappropriate neuronal activity in the enteric nervous system and/or its vagal efferents.

Autistic Disorder↗

PubMed1999

Can autism be diagnosed accurately in children under 3 years?

This study investigated the reliability and stability of an autism diagnosis in children under 3 years of age who received independent diagnostic evaluations from two clinicians during two consecutive yearly evaluations. Strong evidence for the reliability and stability of the diagnosis was obtained. Diagnostic agreement between clinicians was higher for the broader discrimination of autism spectrum vs. no autism spectrum than for the more specific discrimination of autism vs. PDD-NOS. The diagnosis of autism at age 2 was more stable than the diagnosis of PDD-NOS at the same age. Social deficits and delays in spoken language were the most prominent DSM-IV characteristics evidenced by very young children with autism.

Age Factors↗

PubMed2002

Brief report: prevalence of autism spectrum conditions in children aged 5-11 years in Cambridgeshire, UK.

The study aimed to establish prevalence of the broader autistic spectrum, including Asperger syndrome, in 5- to 11-year-olds in Cambridgeshire, UK. Cases of diagnosed autism spectrum condition (ASC) in children who were in Cambridgeshire schools and aged between 5 and 11 years on 31 December 1999 were sought using public records, screening instruments, educational psychology and special educational needs coordinator (SENCO) records. We report a prevalence of ASC in the age group 5-11 years of almost 0.6 percent (57 in 10,000). This is 11 times higher than the rate of classic autism but in line with other recent national and international rates for the broader spectrum. In the responding mainstream schools the prevalence was 0.33 percent. In the responding special school population it was 12.5 percent. The overall sex ratio of the children with ASC replicated findings for classical autism of 4:1 (M:F), but in those children being educated in mainstream schools the sex ratio was 8:1 (M:F).

Autistic Disorder↗

PubMed2005

Executive functions in autism and Asperger's disorder: flexibility, fluency, and inhibition.

The Color-Word Interference Test, Trail Making Test, Verbal Fluency Test, and Design Fluency Test from the Delis-Kaplan Executive Function System (Delis, Kaplan, & Kramer, 2001) were administered to 12 high-functioning adults and adolescents with autistic disorder or Asperger's disorder. Each test included a switching condition in addition to baseline and/or other executive-function conditions. Participants performed significantly below average on a composite measure of executive functioning adjusted for baseline cognitive ability. Complex verbal tasks that required cognitive switching and initiation of efficient lexical retrieval strategies produced the most consistent deficits, whereas cognitive inhibition was intact. We discuss implications of these findings for understanding the neurocognitive substrates of autistic spectrum disorders.

Adolescent↗

PubMed1976

Creatine phosphokinase levels in children with severe developmental disturbances.

Serum creatine phosphokinase (CPK) levels were studied in individuals: 40 psychotic children suffering from childhood autism, atypical personality development, and childhood schizophrenia; five children with childhood aphasia; 22 children with severe personality disorders; 29 normal children and normal siblings of psychotic children; and 14 normal parents of psychotic children. Creatine phosphokinase levels from the entire population of adults and children were normally disturbed, and the mean CPK levels for the eight diagnostic groups were within normal limits. Those 22 children with personality disorders had significantly higher CPK levels than the other diagnostic groups. This relatively higher level of CPK may be related to vulnerability to later development of schizophrenic spectrum disorders. There was no apparent relationship between CPK levels and motor activity, nor was there any change in the level of CPK during a trial of psychoactive medication. Creatine phosphokinase levels remained relatively stable on test-retest determination.

Adolescent↗

PubMed1987

Effects of fenfluramine on EEG and brainstem average evoked response in infantile autism. Preliminary investigation.

The effects of fenfluramine on electrophysiological activity in autistic children were assessed by computerized EEG power analysis and brainstem evoked responses (BSER). Prolonged administration of fenfluramine resulted in a decrease of relative share of alpha-waves in the EEG power spectrum and in corresponding increase in slow activity. No effects of the drug on BSER latencies were observed. The spectral EEG pattern of fenfluramine identified in this sample was compared to the spectra reported for normal volunteers on an acute dose of fenfluramine. The implications of these findings for EEG classification of fenfluramine and neurochemical mechanisms of autism are discussed.

Adolescent↗

PubMed2007

Initial characteristics of psychological development and evolution of the young autistic child.

This longitudinal study assessed multidisciplinary data on 219 children with autistic spectrum disorders from the median age of 5 (Time 1) to 8 years old (Time 2). The evolution of psychological and adaptive data was subjected to cluster analysis. Four clinically meaningful clusters emerged. The first group (21%) demonstrated the most important psychological transformations between the two times of the research. The second group (24%) made progress but less than group 1. The third and biggest group (30%) kept the same developmental slope. The fourth group (25%) showed no significant evolution between the two times of the research. This study highlights important differences among children with autism and the necessity of using a developmental view when considering the autistic syndrome.

Adaptation, Psychological↗

PubMed2003

A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q.

A genome scan was performed on 164 Dutch affected sib pairs (ASPs) with attention-deficit/hyperactivity disorder (ADHD). All subjects were white and of Dutch descent and were phenotyped according to criteria set out in the Diagnostic and Statistical Manual Of Mental Disorders, 4th edition. Initially, a narrow phenotype was defined, in which all the sib pairs met the full ADHD criteria (117 ASPs). In a broad phenotype, additional sib pairs were included, in which one child had an autistic-spectrum disorder but also met the full ADHD criteria (164 ASPs). A set of 402 polymorphic microsatellite markers with an average intermarker distance of 10 cM was genotyped and analyzed using the Mapmaker/sibs program. Regions with multipoint maximum likelihood scores (MLSs) >1.5 in both phenotypes were fine mapped with additional markers. This genome scan indicated several regions of interest, two of which showed suggestive evidence for linkage. The most promising chromosome region was located at 15q, with an MLS of 3.54 under the broad phenotype definition. This region was previously implicated in reading disability and autism. In addition, MLSs of 3.04 and 2.05 were found for chromosome regions 7p and 9q in the narrow phenotype. Except for a region on chromosome 5, no overlap was found with regions mentioned in the only other independent genome scan in ADHD reported to date.

Adolescent↗

PubMed2026

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

PURPOSE: TCF7L2 (OMIM 602228; HGNC:11641) is a transcription factor and a critical effector of the Wnt/ β-Catenin pathway. In 2021, 11 pediatric patients with monoallelic predicted loss-of-function (pLOF) TCF7L2 variants and syndromic features were observed. Characterization of patients with pLOF TCF7L2 variants and neurodevelopmental features-herein referred to as TCF7L2-related neurodevelopmental disorder-is urgently needed. METHODS: We leveraged multiple methods (eg, GeneMatcher, DECIPHER, literature review, and public/private repositories) to identify an international cohort of 76 patients with pLOF TCF7L2 variants and neurodevelopmental features and phenotypically characterized them. We also retrospectively searched for an independent cohort of adults with pLOF TCF7L2 variants (n = 11) from more than 60,000 PennMedicine BioBank patients. RESULTS: Among 76 patients with pLOF TCF7L2 variants, speech delay (95.3%), craniofacial dysmorphisms (73.3%), ophthalmologic conditions (65.5%), autism (62.1%), and orthopedic abnormalities (52.6%) were the most commonly observed. Phenotypic differences did not cluster by variant type or genomic locus. Among PennMedicine BioBank patients, an association of nominal significance with type 2 diabetes with renal manifestations (odds ratio = 5.8; P = .03) was detected, warranting further investigation. CONCLUSION: This study represents the most comprehensive characterization of TCF7L2-related neurodevelopmental disorder to date, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectra. We opened a Simons Searchlight natural history study that is now available for patient enrollment to enhance the understanding of this condition.

Neurodevelopmental syndrome↗

PubMed2004

Investigation of neuroanatomical differences between autism and Asperger syndrome.

BACKGROUND: Autism and Asperger syndrome (ASP) are neurobiological conditions with overlapping behavioral symptoms and of unknown etiologies. Results from previous autism neuroimaging studies have been difficult to replicate, possibly owing to site differences in subject samples, scanning procedures, and image-processing methods. We sought (1) to determine whether low-functioning autism (LFA; IQ<70), high-functioning autism (HFA; IQ>or=70), and ASP constitute distinct biological entities as evidenced by neuroanatomical measures, and (2) to assess for intersite differences. METHODS: Case-control study examining coronally oriented 124-section spoiled gradient echo images acquired on 3 magnetic resonance imaging (MRI) systems, and processed by BrainImage 5.X. Participants were recruited and underwent scanning at 2 academic medicine departments. Participants included 4 age-matched groups of volunteer boys aged 7.8 to 17.9 years (13 patients with LFA, 18 with HFA, 21 with ASP, and 21 control subjects), and 3 volunteer adults for neuroimaging reliability. Main outcome measures included volumetric measures of total, white, and gray matter for cerebral and cerebellar tissues. RESULTS: Intersite differences were seen for subject age, IQ, and cerebellum measures. Cerebral gray matter volume was enlarged in both HFA and LFA compared with controls (P =.009 and P =.04, respectively). Cerebral gray matter volume in ASP was intermediate between that of HFA and controls, but nonsignificant. Exploratory analyses revealed a negative correlation between cerebral gray matter volume and performance IQ within HFA but not ASP. A positive correlation between cerebral white matter volume and performance IQ was observed within ASP but not HFA. CONCLUSIONS: Lack of replication between previous autism MRI studies could be due to intersite differences in MRI systems and subjects' age and IQ. Cerebral gray tissue findings suggest that ASP is on the mild end of the autism spectrum. However, exploratory assessments of brain-IQ relationships reveal differences between HFA and ASP, indicating that these conditions may be neurodevelopmentally different when patterns of multiple measures are examined. Further investigations of brain-behavior relationships are indicated to confirm these findings.

Adolescent↗