Language heterogeneity and regression in the autism spectrum disorders—Overlaps with other childhood language regression syndromes

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Abstract

Some third of parents of children on the autism spectrum report that their toddler’s language regressed, usually insidiously, or stagnated during a prolonged plateau. Regression was associated with loss of sociability, interest in toys, and other behavioral skills, without motor regression. After months or longer, language usually returns, but variably severe autistic features persist. Nonverbal cognitive skills may or may not be affected. Some parents recall some antecedent nonspecific illness or stressor like the absence of a parent, a move, or the birth of a sibling. Occasionally, regression seems temporally related to an epileptic seizure, suggesting an overlap with acquired epileptic aphasia (Landau–Kleffner syndrome—LKS) in which language regression is associated with either clinical seizures or subclinical perisylvian temporo-parietal epileptiform EEG activity. LKS onset peaks at 4–6 years, autistic regression before age 2 years and is infrequently associated with seizures or an epileptiform EEG, except in the rare case of disintegrative disorder, a late global autistic regression which, like LKS, may be associated with electrical status epilepticus in slow wave sleep. Mute or dysfluent children with LKS, autism, or developmental language disorders are unable to decode or have difficulty decoding acoustically presented language (speech). They are at higher risk for epilepsy than fluent children with the typically aberrant language of verbal children with autism. The pathogenesis of language regression remains unknown because autistic toddlers are rarely studied at the time of language regression so that no empirically validated effective treatment has yet been devised.

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

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