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PubMed1988

Asperger's syndrome and autism: the case for a connection.

There is considerable disagreement on the classification of Asperger's syndrome and its relationship to autism. Unlike autism, Asperger's is not usually recognised before 30 months of age, and speech delay is not typical. However, if a child exhibits all the symptoms of autism apart from these two features, are these sufficient grounds for withholding a diagnosis of autism? This paper describes four boys and their father who, by presenting at various points on the autistic/Asperger spectrum, embody this dilemma for the diagnostician. The implications for research and clinical practice are discussed.

Adult↗
PubMed2003

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. The aim of this study is to determine whether MECP2 mutations are responsible for PSV only or may cause other forms of autistic disorders. We screened for mutations by SSCP 19 girls with a clinical diagnosis of autism, two of them fulfilling the PSV criteria. A pathogenic mutation was found only in the latter two cases (R133C and R453X). A long follow-up of these two girls revealed a unique clinical course. They initially developed the first three stages of RTT, they were severely retarded and had autistic behavior. Over the years their abilities increased progressively and by early adolescence they lost autistic behavior, becoming adequately accustomed to people and reaching an IQ close to 45. These results confirm previous clinical studies suggesting that a wide spectrum of RTT exists including girls with mental abilities considerably higher than in classic RTT. We conclude that MECP2 mutations (missense or late truncating) can be found in girls with an IQ close to 45 and a clinical history of PSV of Rett syndrome. Furthermore, MECP2 mutations are not found in patients in which autism remains stable over the years.

Adolescent↗
PubMed1994

When and how does one search for inborn errors of purine and pyrimidine metabolism?

Disorders in purine and pyrimidine metabolism may be difficult to recognize because their recent description means many are little known. They cover a broad spectrum of illnesses, can present from birth to the 80s, have multiple symptoms and lead to early death. Recognition of new disorders requires skill and serendipity. Often parents of affected children provide valuable clues. These disorders should be suspected, particularly where the history involves siblings, in anaemia, susceptibility to infection, or neurological deficits including autism, delayed development, epilepsy, self-mutilation, muscle weakness and - unusual in children and adolescents - gout. Some patients present with kidney stones, renal failure, alone or with the above, or as an intolerance/sensitivity to therapy (fluorouracil or azathioprine immunosuppression). These disorders can be detected from the abnormal metabolites in body fluids and/or altered enzyme activity. Abnormal cellular nucleotides or renal clearance may sometimes provide the only clue. Diagnosis can be difficult because of genetic heterogeneity and interference by blood transfusion, diet or drugs. Tests incorporating enzyme peak shifts and online diode-array detection are essential. Collaborative research is needed to improve the diagnosis and understanding of the metabolic basis for these sometimes devastating disorders and to apply this knowledge to the more common killers of mankind.

Humans↗
PubMed2006

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy.

The onset of epilepsy in brain systems involved in social communication and/or recognition of emotions can occasionally be the cause of autistic symptoms or may aggravate preexisting autistic symptoms. Knowing that cognitive and/or behavioral abnormalities can be the presenting and sometimes the only symptom of an epileptic disorder or can even be caused by paroxysmal EEG abnormalities without recognized seizures, the possibility that this may apply to autism has given rise to much debate. Epilepsy and/or epileptic EEG abnormalities are frequently associated with autistic disorders in children but this does not necessarily imply that they are the cause; great caution needs to be exercised before drawing any such conclusions. So far, there is no evidence that typical autism can be attributed to an epileptic disorder, even in those children with a history of regression after normal early development. Nevertheless, there are several early epilepsies (late infantile spasms, partial complex epilepsies, epilepsies with CSWS, early forms of Landau-Kleffner syndrome) and with different etiologies (tuberous sclerosis is an important model of these situations) in which a direct relationship between epilepsy and some features of autism may be suspected. In young children who primarily have language regression (and who may have autistic features) without evident cause, and in whom paroxysmal focal EEG abnormalities are also found, the possible direct role of epilepsy can only be evaluated in longitudinal studies.

Adult↗
PubMed2007

Awareness of single and multiple emotions in high-functioning children with autism.

This study examined emotional awareness in children with autism. Twenty-two high functioning children with autism (mean age 10 years and 2 months) and 22 typically developing children, matched for age and gender, were presented with the four basic emotions (happiness, anger, sadness and fear) in single and multiple emotion tasks. Findings suggest that children with autism have difficulties identifying their own emotions and less developed emotion concepts (which causes an impaired capacity to differentiate between one's emotions within the negative spectrum). The outcome seems to point more to a single emotion perspective within the negative domain, with a more prominent position of fear in children with autism than in typically developing children.

Anger↗
PubMedDate not supplied

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the parathyroids, auditory system and kidneys. We describe a new male patient, 33-year-old, with 10p partial deletion affected by hypocalcemia, basal ganglia calcifications and a severe autistic syndrome associated with mental retardation. Neurologically he presented severe impairment of language, hypotonia, clumsiness and a postural dystonic attitude. A peripheral involvement of auditory pathways was documented by auditory evoked potentials alterations. CT scan documented basal ganglia calcifications. Hyperintensity of the lentiform nuclei was evident at the MRI examination. Renal ultrasound scan was normal. Haploinsufficiency for GATA3 gene was documented with FISH analysis using cosmid clone 1.2. Phenotypic spectrum observed in del (10p) is more severe than the classical DGS spectrum. GATA3 has been found to regulate the development of serotoninergic neurons. A serotoninergic dysfunction may be linked with autism in this patient.

Abnormalities, Multiple↗
PubMed1992

Differential rates of psychiatric disorders in adults with Down's syndrome compared with other mentally handicapped adults.

The total number of adults with Down's syndrome living in Leicestershire, ascertained by widespread enquiry, was found to be 378. Of these, 371 were matched with adults with mental handicap due to other pathologies, on the basis of age, sex, and type of residence. Those with Down's syndrome were found to have a different spectrum of mental disorders from those without the syndrome. In particular, Down's syndrome patients were more likely to have been diagnosed as having depression and dementia; the controls were more likely to have been diagnosed as suffering from conduct disorder, personality disorder, or schizophrenia/paranoid state. The same proportion of each group had been given a diagnosis of autism.

Adult↗
PubMed2003

Autism, primary pragmatic difficulties, and specific language impairment: can we distinguish them using psycholinguistic markers?

Three groups of children with communication disorders were examined using a series of psycholinguistic markers to explore whether the tasks could identify children with impairments other than specific language impairment (SLI), and to examine whether the different groups within this clinical population could be distinguished reliably from one another. The groups comprised children with autistic spectrum disorders (ASD; n = 13, all males; mean age 10 years 10 months, range 10 years 2 months to 12 years 6 months); children with primary pragmatic language impairment (PLI) but who did not have definite ASD diagnoses (n = 25, 22 males, three females; mean age 11 years 3 months, range 10 years 2 months to 12 years 5 months); and children with specific language impairment (SLI) without marked pragmatic language difficulties (n = 29, 25 males, 4 females; mean age 10 years 10 months, range 10 years 2 months to 11 years 9 months). Clinical markers examined were: the Children's Non-Word Repetition (CNRep), the Past Tense Task (PTT), and the Clinical Evaluation of Language Fundamentals, Recalling Sentences. First, it was found that the a priori groupings were not sufficiently defined and that four groups were actually present. The PLI group was in fact two separate samples: those with PLI pure and those with some autistic-like behaviours (referred to here as PLI plus, following Bishop 1998). Second, group comparisons indicated that CNRep was significantly lower for children with SLI than all other groups (although this measure was not such a good discriminator using a specificity analysis). Third, the markers were able to discriminate between all types of communication impairment in normal control participants (n = 100; 51 females, 49 males; mean age 11 years, range 10 years 5 months to 11 years 6 months) with sensitivity levels of at least 75% and specificity of 80%. Recalling Sentences was the most efficient marker for all groups. Finally, analysis showed that children with PLI plus could be accurately distinguished from all others, scoring most favourably overall on communication markers and on performance IQ scores.

Autistic Disorder↗
PubMed2004

Social communication deficits in conduct disorder: a clinical and community survey.

BACKGROUND: Increasing numbers of children are referred to Child and Adolescent Mental Health Services because of disruptive behaviour. Recent reviews on the origins of conduct problems indicate that the most severe and persistent forms are found predominantly among males with a range of neurodevelopmental vulnerabilities, which are likely to have biological substrates. In this study, we tested the hypothesis that many children who are identified with conduct disorder actually have a primary deficit in pragmatic language skills, of a quality and degree that is similar to children on the autistic spectrum. We hypothesised that pragmatic difficulties may underlie the antisocial behaviour in a proportion of children who are labelled as conduct disordered. METHODS: Using the Children's Communication Checklist (Bishop, 1998), we surveyed 142 children who had been referred for clinical investigation, with a predominant diagnosis of either an autistic spectrum condition (n = 87) or conduct disorder (n = 55), and 60 typically developing comparison children. Among children with conduct disorders, males predominated 9:1. RESULTS: On the basis of parent and teacher ratings, two-thirds of those with conduct disorders had pragmatic language impairments and other behavioural features similar in nature and degree to those of children with autism, independent of IQ. In a further study, we surveyed 54 children who had been excluded from elementary schools in a socio-economically disadvantaged inner-London borough and found over two-thirds to have comparable deficits. CONCLUSIONS: These findings have both theoretical and practical implications. First, they indicate the presence of communicative problems in a sub-group of children in whom conduct rather than language had been the major concern. Second, they indicate that severe deficits in pragmatic abilities and autistic-like behaviours can coexist with psychiatric conditions other than autism, especially in boys. Third, they imply that the management of many disruptive children could profitably be addressed to ameliorating their social and communicative skill deficits.

Autistic Disorder↗
PubMed2002

[Neuropsychological changes in coeliac disease].

OBJECTIVE: Coeliac disease is a gastrointestinal disorder caused by intolerance to cereals due to an immunological mechanism. The intestinal mucosa is damaged, causing a severe malabsorption syndrome. The diagnosis is based on classical clinical features such as diarrhoea and weight loss. However, there is a broad spectrum of this disorder which includes disorders of other organs and systems. In this paper we review the main studies of involvement of the nervous system in coeliac disease. DEVELOPMENT: Studies published to date report a high prevalence of ataxia, headaches and epilepsy, especially associated with bilateral occipital calcifications together with psychological features and psychiatric disorders including behavior change, depression, schizophrenia, autism, and disorders of personality, emotion and family relationships. Problems of learning and cognition are less common. CONCLUSIONS: Many of these processes have only relatively recently been recognized. The pathogenic mechanism of these disorders is not completely clear although biochemical factors such as a low plasma serotonin level may be a cause. Treatment is based on the early recognition of the disorder which is difficult to suspect when there are no gastrointestinal symptoms present and the use of various types of treatment, including a cereal free diet, which is the most effective.

Autistic Disorder↗
PubMed2005

Autism and the serotonin transporter: the long and short of it.

Autism is a neurodevelopmental disorder manifesting early in childhood. Some symptoms of autism are alleviated by treatment with selective serotonin reuptake inhibitors, which are known to interact with the serotonin transporter. Moreover, variation in the gene that encodes the transporter (SLC6A4), especially the HTTLPR locus, is known to modulate its expression. It is natural, therefore, to evaluate whether this variation plays a role in liability to autism. We investigated the impact of alleles at HTTLPR and three other loci in SLC6A4 by using a large, independent family-based sample (390 families, 1528 individuals) from the NIH Collaborative Programs of Excellence in Autism (CPEA) network. Allele transmissions to individuals diagnosed with autism were biased only for HTTLPR, both for the narrow diagnosis of autism (P=0.035) and for the broader diagnosis of autism spectrum (P=0.007). The short allele of HTTLPR was significantly overtransmitted. Investigation of haplotype transmissions suggested that, in our data, biased transmission was only due to HTTLPR. With respect to this locus, there are now seven of 12 studies reporting significant transmission bias of HTTLPR alleles, a noteworthy result in itself. However, the studies with significant findings are almost equally divided between overtransmission of short and overtransmission of long alleles. We place our results within this extremely heterogeneous field of studies. Determining the factors influencing the relationship between autism phenotypes and HTTLPR variation, as well as other loci in SLC6A4, could be an important advance in our understanding of this complex disorder.

Adult↗
PubMed1996

Clinical characteristics of children referred to a child development center for evaluation of speech, language, and communication disorders.

Speech, language, and communication disorders are prominent reasons for referrals to a child development center. From 1984 to 1988, 1,090 preschool children were referred to our child development center, which serves the Tel Aviv metropolitan area. Of all referrals, 432 (41%) were primarily due to speech, language, and communication problems. After exclusion of those with IQ < 50 and those with non-language-related disabilities, 323 children remained. The children were classified into different subtypes of developmental language disorders and autistic spectrum disorders. The main developmental language disorder subtypes were combined expressive-receptive (49%) and expressive (44%). Central processing deficits were less common, occurring in 20 (7%) of the children. Parents of children with developmental language disorders had educational levels similar to those of parents of children referred to the child development center for other causes. However, parents of children with infantile autism had higher educational levels than parents of children with developmental language disorder or parents of children referred for other causes (P < .001). Our results reflect the distribution of language and related problems in an unselected population of preschool children referred to a child development center.

Autistic Disorder↗
PubMed2005

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

Rett syndrome (RTT) is a postnatal neurodevelopmental disorder characterized by the loss of acquired motor and language skills, autistic features, and unusual stereotyped movements. RTT is caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). Mutations in MECP2 cause a variety of neurodevelopmental disorders including X-linked mental retardation, psychiatric disorders, and some cases of autism. Although MeCP2 was identified as a methylation-dependent transcriptional repressor, transcriptional profiling of RNAs from mice lacking MeCP2 did not reveal significant gene expression changes, suggesting that MeCP2 does not simply function as a global repressor. Changes in expression of a few genes have been observed, but these alterations do not explain the full spectrum of Rett-like phenotypes, raising the possibility that additional MeCP2 functions play a role in pathogenesis. In this study, we show that MeCP2 interacts with the RNA-binding protein Y box-binding protein 1 and regulates splicing of reporter minigenes. Importantly, we found aberrant alternative splicing patterns in a mouse model of RTT. Thus, we uncovered a previously uncharacterized function of MeCP2 that involves regulation of splicing, in addition to its role as a transcriptional repressor.

Animals↗
PubMed2001

The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism.

In 1997 in this Journal we published the "Reading the Mind in the Eyes" Test, as a measure of adult "mentalising". Whilst that test succeeded in discriminating a group of adults with Asperger syndrome (AS) or high-functioning autism (HFA) from controls, it suffered from several psychometric problems. In this paper these limitations are rectified by revising the test. The Revised Eyes Test was administered to a group of adults with AS or HFA (N = 15) and again discriminated these from a large number of normal controls (N = 239) drawn from different samples. In both the clinical and control groups the Eyes Test was inversely correlated with the Autism Spectrum Quotient (the AQ), a measure of autistic traits in adults of normal intelligence. The Revised Eyes Test has improved power to detect subtle individual differences in social sensitivity.

Adult↗
PubMed2005

The prevalence of autistic spectrum disorder in children surveyed in a tertiary care epilepsy clinic.

UNLABELLED: It is well documented that children with autistic spectrum disorder (ASD) have an increased prevalence of seizures; however, studies have not been done to evaluate the prevalence of ASD in children with epilepsy. This comorbidity is important to define as early diagnosis and intervention in some children with ASD has been shown to improve outcome. METHOD: Children with epilepsy seen in a tertiary care epilepsy clinic were evaluated using validated autism screening questionnaires (ASQ). In addition, questions about sleep-related disorders, behavior, seizure characteristics, antiepileptic agents, and body mass index (BMI) were requested. An attempt was then made to determine if there was a correlation between the factors identified and ASD. RESULTS: Of the 107 questionnaires returned, 97 ASQ's were properly completed and used in this study. Approximately 32% of children fit the ASQ criteria for having ASD. Most children had not been previously diagnosed. Worst behavior and daytime sleepiness was seen in those at greater risk (p < 0.01). Seizures also occurred earlier (approximately 2 years) in children at risk of having ASD. CONCLUSION: Though confirmatory diagnostic evaluations are needed, this questionnaire-based study suggests that children with epilepsy are at greater risk of having ASD, and illustrates the need for more clinical vigilance. Behavioral difficulties and daytime sleepiness identified in these children could potentially affect their ability to learn. It is of interest that the age of seizure onset identified in those at greater risk corresponds with the approximate age of regression identified in some children with ASD.

Adolescent↗
PubMed2026

Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.

PURPOSE: Pathogenic variants in CNKSR2 (Xp22.12) cause an X-linked neurodevelopmental disorder with intellectual disability, language impairment, and a distinctive epilepsy phenotype, including encephalopathy with status epilepticus during slow-wave sleep (ESES/CSWS). Hemizygous males are typically severely affected, whereas symptomatic females remain rare and incompletely characterized. We describe two unrelated patients with de novo CNKSR2 variants to expand the mutational and sex-dependent phenotypic spectrum of this disorder. METHODS: Both patients underwent clinical, electroencephalographic, and neuroimaging evaluation. CNKSR2 variants were identified by whole exome sequencing with parental segregation, and the splice-site variant was assessed in silico (SpliceAI, MaxEntScan, Human Splicing Finder). RESULTS: Patient 1, a 17-year-old female, harbored a novel canonical splice-site variant (c.64+1G>A) in the N-terminal region and presented with a relatively mild phenotype. In silico analysis supported abolition of the canonical donor splice site. Patient 2, an 8-year-old male, carried a de novo nonsense variant (c.2185C>T, p.Arg729*) and exhibited drug-resistant ESES, autism, and severe language impairment. p.Arg729* had previously been reported in one independent male. Our case represents its second independent occurrence, a CGA>TGA transition at a CpG dinucleotide consistent with a mutational hotspot. CONCLUSION: Together, these cases expand the mutational spectrum and provide further evidence for sex-dependent phenotypic variability in CNKSR2-related epilepsy. Our observations support the hypothesis that X-chromosome inactivation may contribute to phenotypic variability in females, although XCI was not assessed here, and support inclusion of CNKSR2 in epilepsy gene panels regardless of sex.

Humans↗
PubMed2004

The health and social care needs of family carers supporting adults with autistic spectrum disorders.

The families of 26 adults with autistic spectrum disorders (ASDs) who either lived at home or maintained close contact with their families were interviewed about their social and psychological needs related to caring for the person with ASD. In contrast to previous studies of familial carers of children with ASDs, a strong association between parental emotional distress and unmet need was found. Parents also reported a need for more autism-specific intervention and support for adults with ASDs. The study illustrates the continuing and underreported role of families in supporting adults with ASDs.

Adult↗