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The case of a 5-year-old child diagnosed as having pervasive developmental disorder (PDD), autistic type, from age 1 is reported. After surgery of vegetation in middle ear for repetitive otitis, the child presented an improvement in autistic behaviours, previously expressed as impaired social interactions, qualitative abnormalities in communication, a marked delay in language development, echolalia, stereotypies and self-aggressive behaviours. The aim of this paper is to bring attention to occurrences of misdiagnosis of PDD, which can occur when an adequate screening of the autistic syndrome is not realised. The result of the surgery was an improvement in autistic behaviours, despite the persistence of less severe autistic traits that may be more closely related to Asperger’s syndrome.
The purpose of reviewing this case is to highlight the necessity for proper screening of possible somatic causes of autism through the tests required, which must include an exploration of auditory cognitive evoked potentials (hearing test). While it is possible that not all autistic behaviour in this child may be due to mechanical obstruction in the middle ear, we can state that it did influence the prognosis, given that during these years the child was deprived of proper sensory stimulation.
Autism spectrum disorders have often a heterogeneous and uneven prognosis, the prevalence of which is situated in the range of 2–4/10 000.1–5 The prevalence of autistic behaviour traits varies between 0.7–1.2/1000 of the general population. Bleuler introduced the term ‘autism’ in 1911 to describe the loss of contact with reality, leading to an inability or great difficulty communicating with others.6 Kanner’s description in 1943 shows an early notion of autism, which includes the particularities that we know today. Between the 1930s and 1970s there existed a theory of a ‘unitary’ psychoses of childhood that included the concepts of childhood autism and schizophrenia.7,8 Beginning in the 1970s the need to differentiate these disorders appeared. Autism was first included in the American nosology in the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III; 1980, as a developmental disorder. It was not until DSM-IV (1995) that the pervasive developmental disorders (PDD) and Asperger’s syndrome (AS) became a distinct diagnostic category of autism. Currently the diagnoses of autistic disorder and Asperger’s syndrome are based in clinical practice.9 Autism spectrum disorders are characterised by a qualitative change in social interaction, restrictions on verbal and non-verbal communication, lack of emotional expression and stereotyped behaviours. In most cases mild to moderate mental retardation is present. Some patients may develop hypertrophy in some specific ability: drawing, music, reading, numbers, and so on. In Asperger’s syndrome the main deficiency is an inability to communicate effectively and participate in social interaction. It is considered a less severe form of autism since it lacks the disturbances in verbal language.10 In these cases, comorbidity with mental retardation is less prevalent than in autism. Patients with Asperger’s syndrome often obsess about one particular subject and acquire vast knowledge in an area with specificity. Differential diagnosis of a disorder within the autistic syndrome must be made with attention to emotional and sensory deprivation, neurosensory deficits, mental retardation, progressive encephalopathy and Rett syndrome. Thus, comprehensive assessments should be performed. Important tests include: neuropsychological assessment, valuation hearing, visual examination, electroencephalogram (EEG), brain MRI, karyotype, fragile X molecular genotype, general biochemical analysis, thyroid function and toxoplasmosis, other infections, rubella, cytomegalovirus and herpes simplex (TORCH) serology.11 The level of lead should also be measured, especially in children who have pica.
When language delay or hearing loss is suspected in children a hearing test is indicated. It is important to point out that a sensory deprivation at an early age can induce a developmental delay and psychomotor retardation in the development of cognitive functions and language. Other symptoms of sensory deprivation include anorexia, vomiting, coprophagy, pica, stereotyped movements, lack of initiative in games, deficiencies in empathy and socialisation.12–16
Otitis is an inflammation of the ear. According to its anatomic location, otitis is classified as otitis externa and otitis media. Otitis externa is inflammation of the external auditory canal (EAC), usually due to an infection. Otitis media is very common during childhood; the aetiology is bacterial and viral. Bacteria and viruses reach the middle ear through the Eustachian tube. Middle ear infection causes pus and an accumulation of fluid pressure on the eardrum causing pain (otalgia), and possibly resulting in hearing loss (deafness) because the eardrum cannot vibrate. Approximately 70% of children have had an episode of otitis media.17–20 When repeated ear infections are symptomatic and refractory to medication such as antibiotics or analgesics, a complete scan of the head and neck is required to identify factors that can cause predisposition to this kind of problem, such as craniofacial disorders, nasal obstruction, palate defects or adenoidea hypertrophy.11,21,22
This case study involves a 5-year-old child born in London who received follow-up treatment in child psychiatry in Spain for 2 years due to delay in language development and disorders of conduct. The patient had previously received medical care in London. From a very young age the patient had a history of repeated otitis, which was treated symptomatically. During his stay in London, the child was examined by many paediatricians, paediatric neurologists and psychiatrists, who diagnosed the child as having autism spectrum disorder because of the presence of a qualitative change in social interaction, a qualitative alteration in communication, restricted and stereotyped behaviour patterns and activities, delay in the language used for social communication and lack of imaginative play.
After 2 years of living in Spain with his mother, he was placed in a public school in Madrid for the first time at 3 years of age. The teachers observed significant delays in language development, some of which were the result of having spent his first 3 years living between two countries with different languages. Professionals from the school suspected hearing loss due to difficulties in social interaction. The school psychologist reported an inability to establish appropriate relationships with peers, lack of empathy, lack of interaction in games with other children, stereotyped use of language with an inability to initiate or maintain a conversation, and presence of stereotyped and repetitive motor mannerisms. The school also reported low tolerance to frustration and frequent episodes of self-aggressive behaviour, such as biting his arm and hitting his head.
The psychologist referred the child to the San Carlos Clinical Hospital. During initial interviews with the patient and his mother in the children’s psychiatry unit, the behaviours noted above were observed and recorded. His mother stated that during episodes of otitis, there was an exacerbation of ritualised behaviours and episodes of self-aggressive behaviours. We decided to refer the case to otolaryngology services to assess the possibility of surgery, given the existence of frequent repetitive otitis and otalgia refractory to symptomatic treatment.
During surgery for otitis, the otolaryngologist observed and removed an adenoidea hypertrophy. Approximately 1 month after the surgery, we made a psychopathological examination, reporting that the child was conscious, oriented and affable, as well as well groomed. Although he did not maintain eye contact, he was reactive to stimuli, responding when spoken to and did not show evidence of stereotypies or mannerisms. The child showed some tension when speaking, responding with short phrases when asked, and seemed slightly suspicious. There was no evidence of psychosis or somatic alterations in circadian disorders or loss of appetite or weight. The child played spontaneously during the interview, and was affectionate and loving with his mother as well as the therapists at the end of the interview.
The school and the family both reported significant improvement in the patient post surgery. A 6-month follow-up revealed a lasting qualitative increase in social interaction, and while the child’s tendency is to play alone, he is becoming increasingly sociable with other children from school. There is an improvement in his language shown by the disappearance of echolalia, improved literacy, virtual absence of stereotypies and mannerisms, and reduced episodes of self-aggressive behaviour. The child still displays a low tolerance for frustration and poor maintenance of eye contact, but gives the impression of being more connected with his environment.
Otitis media is one of the most common diseases of childhood and is a major cause of hearing loss in children. Approximately 70% of children have had an episode of otitis media. The main aetiology is usually of bacterial origin. When there are repeated episodes and becomes refractory to antibiotics and symptomatic medication, a complete scan of the head and neck is required to identify factors that cause predisposition to this kind of problem, such as craniofacial disorders, nasal obstruction, hypertrophy or palate defects adenoidea.23,24 The purpose of reviewing this case is to highlight the necessity for proper screening of possible somatic causes of autism through the tests required, which must include an exploration of auditory cognitive evoked potentials (hearing test). While it is possible that not all autistic behaviour in this child may be due to mechanical obstruction in the middle ear, we can state with some certainty that it influenced the prognosis, given that during these years the child was deprived of proper sensory stimulation. Given the dramatic improvement made by the patient over the course of 1 month after surgery, we can conclude that it is important to observe the longitudinal evolution of a patient in order to correctly diagnose the child as having an autistic spectrum disorder.
Competing interests: None.
Patient consent: Patient/guardian consent was obtained for publication.