European Child & Adolescent Psychiatry 12:100102 (2003) DOI 10.

1007/s00787-003-0289-3

CASE REPORT

Jaime Morey-Canellas U. Sivagamasundari Hilary Barton

A case of autism in a child with Aperts syndrome

Accepted: 11 September 2002

Dr. U. Sivagamasundari Learning Disabilities Service Alders House Llanfrechfa Grange Hospital Cwmbran, Torfaen, South Wales, UK

autism and acrocephalosyndactyly syndromes. We discuss issues regarding the diagnosis and co-morbidity of the autistic spectrum disorders. s Key words acrocephalosyndactyly syndromes Aperts syndrome autistic spectrum disorders pervasive developmental disorders learning disabilities

Dr. Jaime Morey-Canellas () Dr. H. Barton Children and Adolescent Psychiatry Section Division of Psychological Medicine University of Wales College of Medicine Heath Park Cardiff, CF14 4XN, Wales, UK E-Mail: jaime.morey@ntlworld.com

s Abstract We present the case of a 7-year-old child with Aperts syndrome who was diagnosed as suffering from childhood autism. As far as we are aware this is the first described association between

Introduction
There is agreement in the literature that genetic factors play an important role in the aetiology of autism and that some congenital medical conditions have an increased prevalence rate of autism when compared to the general population. Controversy arises when discussing how prevalent these underlying medical conditions are. Rutter et al. [13] consider that roughly 10 % of autism sufferers have an underlying identifiable cause. Gillberg and Coleman [7] proposed a rate of 30 % whereas Barton and Volkmar [2] found the prevalence to vary between 10 % and 15 % depending on the diagnostic system used. Aperts syndrome is the most frequent form of the acrocephalosyndactyly syndromes. It has an estimated incidence of one in every 160,000 live births. It was first described by Wheaton in 1894 [16] and further reported on by Eugene Apert in 1906 [1]. The syndrome is the result of mutations in the fibroblast growth factor receptor 2 gene, located on chromosome 10. It presents with a number of typical features, the most common being syndactyly and an irregular craniosynostosis, resulting from premature

closure of sutures in the skull and face. The affected individuals have a tall brachycephalic skull, midfacial hypoplasia, reduced supraorbital ridges, a narrow (and frequently cleft) palate and a beak shaped nose. The syndactyly usually involves all the toes and frequently the 3rd, 4th and 5th fingers. Mental retardation is clearly associated with Aperts syndrome but there are conflicting reports with regard to the exact prevalence.Although it was initially thought that all sufferers had some mental impairment [3], more recent studies have shown that although mental impairment occurs in a significant proportion it is not found in all sufferers [46, 911]. It is believed that in most cases the central nervous system malformations are responsible for the mental retardation. A search for reported associations between autistic spectrum disorders and acrocephalosyndactyly syndrome using EMBASE, Medline and ClinPsych proved fruitless. When this search was extended to encompass more generic psychiatric problems, we found a few papers reporting on the association between acrocephalosyndactyly syndromes and developmental delay. One paper by Sarimski [14] reported children with Apert syndrome functioned fairly well socially, despite their disabilities and potential for psychological diffi-

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culties. The same paper also showed that parents of Apert sufferers had increased scores of parental stress arising from difficulties over the acceptance of their offsprings disabilities.

Case report
XY, a 7-year-old boy with Aperts syndrome and developmental delay, was referred to the social and communication disorders team after having been assessed in a paediatric clinic due to parental concerns regarding his behaviour. They had noticed that XY liked to move his hands or objects in front of his face for hours at a time and since the age of three had also displayed flapping hand movements, mainly when bored or excited. His speech appeared repetitive and he had a very limited understanding of concepts. XY intensely disliked change and would become very upset when unexpected things happened or when people did not keep to a specified timetable. He had developed attachments to inanimate objects and in new social situations he would withdraw into his own world. When playing with peers, he would expect others to follow his rules, otherwise he would become disruptive. XY has a large collection of videos and spends hours re-arranging or watching them having memorised their serial numbers. Despite his developmental delay he has an extensive knowledge of Walt Disney videos, and a very good memory for places and people he has visited and their video collections. XY lives with his parents and two younger siblings. There is no family history of developmental delay, speech and language problems or social interaction difficulties. Nor could we find evidence, from the case notes, of the presence of other factors that have been associated with autism. The mothers pregnancy was uneventful, and XY was born by vaginal delivery weighing 3.771 kg. Labour was prolonged because of XYs increased head circumference. From the age of eighteen months and due to his slow development, he was regularly visited by Portage trained staff [15], who set developmental goals and provided training for the family. He first walked at eighteen months, became continent when he was three years old, started using single words at three and a half and used three word phrases a year later. At five years of age his play still lacked imagination and mainly consisted of spinning the wheels of toy cars. During his childhood, XY spent a significant proportion of time in and out of the hospital having operations to his hands and skull. He also had an orchidopexy and suffered from severe apnoeic attacks of unknown origin. His hearing is impaired, particularly in the lower and upper ranges, and he has minimal vision in his left eye, the vision in his right eye being average. XY is still

attending yearly follow-ups at a specialist hospital in London to monitor his intracranial pressure, and he is also seen regularly at an ear, nose and throat clinic to have his hearing checked. At present, XY is in mainstream education within a local primary school. He has been identified for special educational needs and receives one-to-one support. XY was assessed by the social and communication disorders team. The team is multidisciplinary and allows comprehensive assessments from different professionals: psychiatry, paediatrics, psychology, speech and language therapy and nursing. The tests that were carried out included the Leiter International Performance Scale, supplemented with subtests of the Wechsler Pre-School and Primary Scale of Intelligence, which were used to assess his IQ. This was found to fall within the high range of mild mental retardation according to ICD-10 criteria [17]. During this assessment it was already noted that he displayed significant social impairments that fell within the autistic spectrum. His language was found to be good at a concrete level, but he experienced difficulties with abstract concepts. His speech tended to focus around his interests and some of it appeared ritualistic in nature. XYs social use of language was inappropriate but he had good intonation, and used non-verbal gestures appropriately. He was described as having increased sensitivity to everyday noises that at times upset him, resulting in him covering his ears. He frequently displays inappropriate social responses, he can be over-familiar with strangers, at times misinterprets other peoples emotions and tends to ignore children who visit him. XY exhibits ritualistic behaviours such as repeatedly tidying-up his videotapes, remembering their copyright numbers, not allowing anyone to sit in his chair at home and getting extremely upset when changes are made to his daily routine. When frustrated or upset he paces back and forwards. Finally, the parents were interviewed by a psychiatrist using the Autism Diagnostic Interview-Revised ADI-R [12], which is a well-known standardised diagnostic tool. After gathering and discussing all the information available, the social and communication disorders team made an ICD-10 diagnosis [17] of Childhood Autism, F 84.0.

Discussion
The case described highlights the need to consider the presence of autism in sufferers of other pathologies who display the features of the pervasive developmental disorders PDD (ICD-10). Diagnoses of disorders such as autism, which are defined on the basis of abnormal behavioural patterns, are

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more difficult to make when there are obvious physical anomalies that can, indirectly, affect the childs social maturity [8]. In XYs case a dysmorphic appearance, coupled with both frequent and long periods of hospitalisation, can influence the childs social ambience and affect his social development, leading to more immature social interactions, isolation and ostracism. To avoid overlooking a diagnosis of autistic spectrum disorders in such complex cases, we think that it should only be excluded if it has been actively considered and investigated by taking a thorough developmental history, paying special attention at the evolution of symptoms over time, and after gathering all the assessments, information, points of view and discussion that a multidisciplinary approach generates. We do not yet know if the lack of reported association between autism and acrocephalosyndactyly syndromes is because there is no link or because it has not been previously identified. It is interesting to note that XYs rela-

tives are actively involved in the National Support Group for Craniofacial Disorders, and members of this association have reported similar symptoms to those of XY in their offspring. Other parents have also contacted XYs mother through the internet and reported similar behaviours. We wrote this report with the hope that it will raise awareness of a possible association between acrocephalosyndactyly syndromes and autistic spectrum disorders. We feel that the next step should be to try to screen a sample of acrocephalosyndactyly cases for autistic spectrum disorders to try to clarify whether there is an association. If that association proved positive then further study of such cases could help clarify the aetiology of autistic spectrum disorders. We are at present in the process of recruiting such a sample and we would be interested to hear about other professionals experiences.

References
1. Apert E (1906) Lacrocephalosyndactyle. Bull Soc Med 23:13101313 2. Barton M, Volkmar F (1998) How commonly are known medical conditions associated with autism? Journal of Autism and developmental Disorders 28:273278 3. Blank CE (1960) Aperts syndrome (a type of acrocephalosyndactyly): observations on a British series of thirty-nine cases. Annals of Human Genetics 24:151164 4. Cohen MM Jr (1979) Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. In ODonell JJ, Hall BD, Paul NW (eds) Penetrance and Variability in Malformation Syndromes. National Foundation-March of Dimes. BD: OAS XV(5B): pp 1363 5. Cohen MM Jr, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35:3645 6. David JD, Poswillo D, Simpson D (1982) The Craniosynostoses: Causes, Natural History and Management. New York: Springer-Verlag, pp 205206 7. Gillberg C, Coleman M (1996) Autism and medical disorders a review of the literature. Developmental Medicine and Child Neurology 38:191202 8. Gilmour J, Skuse D (1996) Short stature: the role of intelligence in psychosocial adjustment. Archives of Disease in Childhood 75:2530 9. Lefebvre A, Travis F, Arndt Munro IR (1986) A psychiatric profile before and after reconstructive surgery in children with Aperts syndrome. Br J Plast Surg 39:510513 10. Patton MA, Goodship J, Hayward R, Lansdown R (1988) Intellectual development in Aperts syndrome: a long term follow up of 29 patients. J Med Genet 25:164167 11. Renier D (1986) Intracranial pressure in craniosynostosis: pre- and post-operative recordings. Correlations with functional results. Paper presented at the Craniosynostosis Conference, University of Virginia, Charlottesville,April 24 12. Rutter M, Lord C, LeCouteur A (1994) Autism Diagnostic Interview R, Research (Third Edition) 13. Rutter M, Bailey A, Bolton P, Le Couteur A (1994) Autism and known medical conditions: myth and substance. Journal of Child Psychology and Psychiatry 35:311322 14. Sarinski K (1998) Children with Apert syndrome: behavioural problems and family stress. Developmental Medicine and Child Neurology 40 (1):4449 15. Shearer M, Shearer DE (1972) The Portage project: a model for early childhood education. Exceptional children 36:210217 16. Wheaton SW (1894) Two specimens of congenital cranial deformity in infants with fusion of the fingers and toes. Trans Pathol Soc London 45:238239 17. World Health Organisation (1992) The ICD-10 Classification of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines