Language heterogeneity and regression in the autism spectrum disorders—Overlaps with other childhood language regression syndromes
Introduction
Autism, which I use in this paper as short for the entire spectrum of autistic disorders (ASDs, alias pervasive developmental disorders [PDDs] in DSM IV [1]), is a behaviorally defined developmental disorder of the immature brain under strong genetic influence. Impaired communication, both verbal and nonverbal, is the second of the three defining domains of behavior considered its core deficits in DSM IV and in the International Classification of Diseases (ICD 10 [2]). Failure to develop language or inadequate communication skill is the presenting symptom in most toddlers and preschoolers. About one in three parents report that their toddler’s language regressed, usually together with other developmental achievements, and has not recovered fully, yet this frequent occurrence remains unexplained. This paper attempts to address why this is the case, and why this catastrophic event is still so poorly understood that no consensus on preventive or therapeutic measures has emerged. It is based on both a review of published literature and personal experience.
Section snippets
Language disorders in autism
Kanner [3] and Asperger [4], who in 1944 described autism almost contemporaneously with Kanner, both commented on the peculiarities of the language of verbal children with autism, their aberrant prosody, large, esoteric vocabularies, immediate or delayed echolalia (so-called formulaic speech), their perseverations and repeated questioning. The language of this type of ASD child has been the subject of extensive research (e.g., [5], [6], [7], [8], [9], [10], [11]) whereas, perhaps
Historical background on childhood autistic/language regression
In Kanner’s original cohort of 11 children [3], two were and remained nonverbal, one spoke very little, one lost the few words he used at about 16 months and remained nonverbal, and one who had 4 words at age 1 year made no further progress until age 5 years when she started to speak again. The other six children were verbal, albeit onset of speech was often delayed [18]. Among 261 ASD children Kurita, a child psychiatrist from Japan, described 97 (37%) who sustained a language and behavioral
Problems with criteria for regression and its reality
Defining language regression is beset by a number of problems that make it difficult to compare studies and evaluate prevalence data. None of these problems has received a clear answer to date.
The first problem is clinicians’ reluctance to give an ASD diagnosis and their lack of uniform diagnostic criteria, especially in toddlers whose motor milestones are on target and who seem otherwise healthy. Yet until recently physicians wrote the bulk of studies on language regression because of the
Acquired epileptic aphasia (Landau–Kleffner syndrome—LKS) and verbal auditory agnosia (VAA)
There is another type of pediatric language regression, acquired epileptic aphasia or Landau–Kleffner syndrome (LKS) [30] which, although much rarer than autistic/language regression, has received a great deal more attention because it occurs in somewhat older normally speaking children and is thus less likely to pass unnoticed (Table 1). The criterion for LKS is that regression, which may be abrupt or insidious and may fluctuate, occurred in the context of either clinical seizures or an
Epilepsy in autism and in autistic/language regression
As just stated for LKS, the potential causal role of epilepsy in the pathophysiology of LKS, autism, and autistic/language regression remains controversial. Epilepsy in autism is not limited to children who experienced a regression, nor is regression regularly linked to epilepsy. A number of studies have documented that by adolescence about a third of all ASD children will have experienced at least two unprovoked seizures, thus fulfilling criteria for epilepsy, and that the probably of epilepsy
Neuropathology
It is now well documented that the vast majority of individuals with autism do not have discernible lesions on MRI. The dominant hypothesis is that language regression, whether in the context of LKS or ASD, is in most cases, like in benign Rolandic epilepsy, the consequence of a disorder of brain function, not structure. Consequently there is a dearth of evidence on detectable pathologic correlates, which negative brain biopsies in two cases of classic LKS support [64]. Loss of language
Course and prognosis of language regression
When language regression occurs in LKS, its severity often fluctuates. Typically clinical seizures respond readily to anticonvulsants and eventually remit in adolescence. Prognosis for language recovery varies, with some individuals remaining severely affected into adulthood and others recovering speech after a variable period of time extending from weeks to more often years. Mantovani [87] provided long term follow-up on Landau and Kleffner’s original 6 cases and three others: 4 made a
Treatment
No controlled treatment trial seems to have been carried out in either LKS or autistic/language regression. As stated earlier, like those of epilepsy with centro-temporal spikes, seizures in LKS are readily controlled with antiepileptic medication; its effect on language in LKS and autistic/language regression is much less predictable and in many cases disappointing. There are anecdotal reports of improvement with antiepileptic drugs (AEDs) (e.g., [23], [94], [95]) corticosteroids [84], [85]
Conclusions
There is much more to learn about the syndromes of childhood language regression not attributable to an acquired structural brain lesion. There are three partially overlapping syndromes, all behaviorally, not categorically defined, none of which is fully understood and none fully specific. The first, best delineated syndrome, but one of the rarest, is LKS. At least for the present, this term needs to be reserved for children with seizures or subclinical epilepsy who are not autistic. In general
References (99)
- et al.
Update on the language disorders of individuals on the autistic spectrum
Brain Dev
(2003) Infantile autism with speech loss before the age of thirty months
J Am Acad Child Adolesc Psychiatry
(1985)- et al.
Language regression in childhood
Pediatr Neurol
(2001) - et al.
Auditory associative cortex dysfunction in children with autism: evidence from late auditory evoked potentials (N1 wave-T complex)
Clin Neurophysiol
(1999) - et al.
Electrophysiologic manifestations of impaired temporal lobe auditory processing in verbal auditory agnosia
Brain Lang
(1995) - et al.
Epilepsy in autism
Lancet Neurology
(2002) - et al.
Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study
Neuroimage
(2004) - et al.
Scalp topography and source analysis of interictal spontaneous spikes and evoked spikes by digital stimulation in benign rolandic epilepsy
Electroencephalogr Clin Neurophysiol
(1998) - et al.
Pure word deafness due to left hemisphere damage
Cortex
(1992) - et al.
The neurodevelopmental frontostriatal disorders: evolutionary adaptiveness and anomalous lateralization
Brain Lang
(2000)
Serum autoantibodies to brain in Landau–Kleffner variant, autism, and other neurologic disorders
J Pediatr
Childhood disintegrative disorder: should it be considered a distinct diagnosis?
Clin Psychol Rev
Proinflammatory and regulatory cytokine production associated with innate and adaptive immune responses in children with autism spectrum disorders and developmental regression
J Neuroimmunol
Genetic and immunologic considerations in autism
Neurobiol Dis
Case study: corticosteroid treatment of language regression in pervasive developmental disorder
J Am Acad Child Adolesc Psychiatry
Age of symptom onset in young children with pervasive developmental disorders
J Am Acad Child Adolesc Psychiatry
Outcome of multiple subpial transections for autistic epileptiform regression
Pediatr Neurol
Surgical treatment of severe autistic regression in childhood epilepsy
Pediatr Neurol
Landau–Kleffner syndrome: temporal lobe tumor resection results in good outcome
Pediatr Neurol
Autistic disturbances of affective contact
Nervous Child
‘Autistic psychopathy’ (translation and annotation by U. Frith of the original 1944 paper)
A comparative study of infantile autism and specific developmental receptive language disorders. III. Discriminant function analysis
J Autism Child Schizophr
Language acquisition and communicative behavior in autism: toward an understanding of the “whole” of it
J Speech Hear Disord
The expressive language characteristics of autistic children compared with mentally retarded or specific language-impaired children
A comparison of language issues in high-functioning autism and related disorders with onset in childhood and adolescence
Dissociations in form and function in the acquisition of language by autistic children
Language and communication in autism
Language impairments in children with complex neurodevelopmental disorders: the case of autism
Sign language and autism
J Aut Dev Disord
Autistic spectrum disorders: clinical presentation in preschool children
J Child Neurol
Autistic children are also dysphasic
Syndrome specific remediation in preschool developmental dysphasia
Variability in the clinical presentation of autism: issues of diagnosis and treatment in the preschool years
Follow-up study of eleven autistic children originally reported in 1943
J Autism Child Schizophr
Regression and word loss in autistic spectrum disorders
J Child Psychol Psychiatry
Regression in pervasive developmental disorders: Seizures and epileptiform EEG correlates
Pediatrics
Early regression in social communication in autism spectrum disorders: a CPEA Study
Dev Neuropsychol
Cognitive and behavioral disorders of epileptic origin in children
Aphasie “acquise” de l’enfant avec epilepsie (syndrome de Landau et Kleffner): Douze observations personnelles
Rev Neurol (Paris)
Autistic and dysphasic children. I: clinical characteristics
Pediatrics
Clinical characteristics of language regression in children
Dev Med Child Neurol
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
J Aut Dev Disord
Validation of the phenomenon of autistic regression using home videotapes
Arch Gen Psychiat
Syndrome of acquired aphasia with convulsive disorder in children
Neurology
Natural history, course and prognosis of the Landau and Kleffner syndrome
Age of onset and outcome in ‘acquired aphasia with convulsive disorder’ (Landau–Kleffner syndrome)
Dev Med Child Neurol
Landau–Kleffner syndrome: course and correlates with outcome
Dev Med Child Neurol
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Fluency patterns in narratives from children with localization related epilepsy
2013, Journal of Fluency DisordersCitation Excerpt :According to the Epilepsy Foundation of America 45,000 new cases are diagnosed in children under the age of 15 each year. Despite the fact that epilepsy is such a frequent disorder of childhood, there are virtually no reports of the speech and language problems seen in this population in any of the major communication disorders journals, with the exception of Landau–Kleffner Syndrome (LKS), whose major clinical feature is language regression (Rapin, 2006). Camfield and Camfield (2002) place LKS among the “catastrophic” epilepsy syndromes.
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2012, Research in Autism Spectrum DisordersCitation Excerpt :Language is not the only skill area where regression is apparent, but it is arguably the most obvious and dramatic. Thus, as Rapin (2006) points out, the child must actually lose language as opposed to the individual stagnating in verbal skill development. Autism is a neurodevelopmental disorder with a lifelong course (Briegel, Schimek, & Kamp-Becker, 2010; Gillberg, 2010; Lo-Castro, Benvenuto, Gallasso, Porfino, & Guratolo, 2010; Nydén et al., 2010; Prandota, 2010a, 2010b).
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