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Journal of Autism and Developmental Disorders, Vol. 29, No. 6, 1999 Childhood Disintegrative Disorder Savita Malhotra1,2 and Nitin Gupta1 Childhood disintegrative disorder (CDD) is a clinical syndrome characterized by disintegration of mental functions and regression of acquired language and intellectual functions after a pe- riod of normal development typically of 3 to 4 years. Although recognized for many years, re- search on this condition is less advanced than that in autism. Epidemiological data are limited but the condition is much less common than autism. The relationship of this condition to autism remains the topic of debate. Neuropathological and other medical conditions are sometimes as- sociated with the disorder but contrary to earlier belief this is not typical. Collaborative research would facilitate our understanding of this condition. INTRODUCTION Childhood disintegrative disorder (CDD) is a clin- ical syndrome characterized by disintegration of men- tal functions and regression of acquired language and intellectual functions after a period of normal devel- opment up to 3-4 years in children. Occurrence of this condition, though with a different name, was described as long back as in 1930 (Heller, 1930) even before In- fantile Autism, a related disorder; first described by Kanner in 1943. However, the research and develop- ment in CDD subsequently has not kept pace with that in autism, one of the most extensively studied disorder in child psychiatry today. CDD is currently classified under the broad rubric of Pervasive Developmental Disorders (PDD) which includes autism and autistic- like conditions in the major diagnostic systems opera- tional nowadays, namely, ICD-10 (World Health Organization [WHO], 1992) and DSM-IV (American Psychiatric Association [APA], 1994). CDD is con- sidered to be an autistic-like condition; which although recognized clinically, remains in need of better under- standing (Rutter & Schopler, 1992). Although there are 1 Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh-160012, India; e-mail: [email protected] 2 To whom correspondence should be addressed. several reasons for continued interest, understanding of the reasons for paucity of research in this condition is equally important. The issues of nosology, relationship with or dis- tinctiveness from other PDDs, and the nature of the dis- order are open and still unresolved. The best-known as- pect of CDD is its clinical description. Actual rarity of the disorder has been one of the major factors for the meager research data on CDD. In the following review, attempt is made to highlight these issues in the back- ground of the available knowledge on CDD and other PDDs, in order to help form a perspective on CDD. EVOLUTION OF CONCEPT Conditions similar to Kanner's original concept of autism were reported in the early part of 20th century. Heller (1930) described six children who, after normal development to 3 or 4 years of age, showed mood changes, loss of speech, complete regression with lim- ited recovery and termed it as "dementia infantalis." Later on, Kanner (1943) postulated that dementia in- fantalis and infantile autism were separate. Impetus to identification of such cases was given by the work of Kolvin (1971) who identified a group, intermediate (in age of onset) between infantile psychosis and late-onset psychosis. Following that, numerous case reports and 491 0162-3257/99/1200-0491S16.00/0 @ 1999 Plenum Publishing Corporation KEY WORDS: Childhood disintegrative disorder; autism.

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Page 1: CDD Article

Journal of Autism and Developmental Disorders, Vol. 29, No. 6, 1999

Childhood Disintegrative Disorder

Savita Malhotra1,2 and Nitin Gupta1

Childhood disintegrative disorder (CDD) is a clinical syndrome characterized by disintegrationof mental functions and regression of acquired language and intellectual functions after a pe-riod of normal development typically of 3 to 4 years. Although recognized for many years, re-search on this condition is less advanced than that in autism. Epidemiological data are limitedbut the condition is much less common than autism. The relationship of this condition to autismremains the topic of debate. Neuropathological and other medical conditions are sometimes as-sociated with the disorder but contrary to earlier belief this is not typical. Collaborative researchwould facilitate our understanding of this condition.

INTRODUCTION

Childhood disintegrative disorder (CDD) is a clin-ical syndrome characterized by disintegration of men-tal functions and regression of acquired language andintellectual functions after a period of normal devel-opment up to 3-4 years in children. Occurrence of thiscondition, though with a different name, was describedas long back as in 1930 (Heller, 1930) even before In-fantile Autism, a related disorder; first described byKanner in 1943. However, the research and develop-ment in CDD subsequently has not kept pace with thatin autism, one of the most extensively studied disorderin child psychiatry today. CDD is currently classifiedunder the broad rubric of Pervasive DevelopmentalDisorders (PDD) which includes autism and autistic-like conditions in the major diagnostic systems opera-tional nowadays, namely, ICD-10 (World HealthOrganization [WHO], 1992) and DSM-IV (AmericanPsychiatric Association [APA], 1994). CDD is con-sidered to be an autistic-like condition; which althoughrecognized clinically, remains in need of better under-standing (Rutter & Schopler, 1992). Although there are

1 Department of Psychiatry, Postgraduate Institute of MedicalEducation and Research, Chandigarh-160012, India; e-mail:[email protected]

2 To whom correspondence should be addressed.

several reasons for continued interest, understandingof the reasons for paucity of research in this conditionis equally important.

The issues of nosology, relationship with or dis-tinctiveness from other PDDs, and the nature of the dis-order are open and still unresolved. The best-known as-pect of CDD is its clinical description. Actual rarity ofthe disorder has been one of the major factors for themeager research data on CDD. In the following review,attempt is made to highlight these issues in the back-ground of the available knowledge on CDD and otherPDDs, in order to help form a perspective on CDD.

EVOLUTION OF CONCEPT

Conditions similar to Kanner's original concept ofautism were reported in the early part of 20th century.Heller (1930) described six children who, after normaldevelopment to 3 or 4 years of age, showed moodchanges, loss of speech, complete regression with lim-ited recovery and termed it as "dementia infantalis."Later on, Kanner (1943) postulated that dementia in-fantalis and infantile autism were separate. Impetus toidentification of such cases was given by the work ofKolvin (1971) who identified a group, intermediate (inage of onset) between infantile psychosis and late-onsetpsychosis. Following that, numerous case reports and

4910162-3257/99/1200-0491S16.00/0 @ 1999 Plenum Publishing Corporation

KEY WORDS: Childhood disintegrative disorder; autism.

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492 Malhotra and Gupta

case series appeared based on different classificatorysystems, yet having commonalties in presentation andcourse.

Over the years, numerous criteria/definitions havebeen proposed for CDD, reflecting the conceptual shiftsin the understanding of CDD. Heller (1969) proposedthe following guidelines, namely, (a) onset between 3and 4 years of age, (b) progressive intellectual and be-havioral deterioration with loss/marked impairment ofspeech noted at the time of onset, (c) associated be-havioral/affective symptoms (fear, overactivity) andpossible hallucinations, (d) an absence of obvious signsof neurological dysfunction or apparent "organicity"(e.g., normal facial appearance).

Rutter et al. (1969) used the term "disintegrativepsychosis of childhood" and defined it as (a) normal ornear normal development for first few years of life,(b) onset after 2/4 years, (c) severe disintegration in-volving a severe disorder of emotions, behavior, andrelationships and often a loss of speech and other func-tions. This concept was based on the premise that CDDis a type of childhood psychosis that could occur atvarying ages (Kolvin, 1971). By definition, childrenwith autism and childhood schizophrenia were ex-cluded from this category. However, these conditionswere included in the ICD-9 (WHO, 1978) under thecategory "psychosis with origin specific to childhood"(code-299.1).

Using the same criteria as in ICD-9, Corbett, Har-ris, Taylor, and Trimble (1977) suggested a minor mod-ification of the term to "progressive disintegrative psy-chosis of childhood" in order to distinguish such casesfrom psychiatric illnesses following nonprogressiveencephalopathy. This recommendation was based onthe evidence that many such children had the presenceof organic brain disease. However ICD-9, and its mod-ifications, did not prove to be very influential in guid-ing the thinking of clinicians and researchers (Volkmar,Klin, Marans, & Cohen 1997).

In contrast, DSM-III primarily emphasized the or-ganic basis and presumed association of this disorderwith some progressive neurological processes (APA,1980) and hence did not accord a formal diagnostic sta-tus to CDD and treated it as a prototype of dementia.Instead, in DSM-III, a new category termed "ChildhoodOnset PDD" (COPDD) came up which included chil-dren with an autistic-like condition that developed after30 months of age. Distinction between COPDD andautism was based only on age at onset; this conceptcould not be validated and age at onset as a distin-guishing feature was dropped in the DSM-III-R (APA,1987). Autism and COPDD were clubbed together as

Autistic Disorders, broadly considered to be disordersof development. Thus, "Disintegrative Psychosis" ofICD-9 was equivalent to "Autistic Disorder-onset inchildhood" in DSM-III-R. The shift in thinking was ev-ident at this stage. The concept of psychosis of child-hood was replaced by the concept of disintegration ofmental functions; a concept that was similar to de-mentia in adults. A further shift was apparent, wherethe ideas about disintegration of mental functions beingacquired due to a possible neurological disorder at somestage were replaced by being developmental in origin.

Even though the diagnostic framework of DSM-III-R formed the basis of most of the case reports, con-troversy was generated about putting cases of CDDunder the broad category of developmental disordersof childhood. This was so as CDD diagnosis requiredan apparently normal development till the stage of re-gression and progressive course, both of which werebasically against the concept of PDD. Burd, Fisher, andKerbashian (1988) provided some clarity to the basicconcept by proposing the following diagnostic criteria,namely, (a) period of relatively normal developmentfrom birth past 30 months of age; (b) rapid regressionlasting 1-3 years leading to (i) gross and sustained im-pairment in reciprocal social interaction, (ii) almosttotal lack of verbal and nonverbal communication,(iii) profound mental retardation with correspondingfunctioning in adaptive behavior; (c) almost no measur-able growth in cognitive, linguistic, social, or adaptivefunctioning following the period of regression; (d) main-tenance of good fine and gross motor skills; (e) the pres-ence of compulsive and/or stereotypic behaviors; (f) notdue to storage disease, organomegaly, or diagnosableneurological disease.They labeled such cases PervasiveDisintegrative Disorder. Malhotra and Singh (1993),used these diagnostic criteria in their cases and added tothe validity of this concept.

Although the diagnostic approaches of ICD-9,DSM-III, and DSM-III-R systems remained highly di-vergent, there was agreement on certain key featuresthat characterized CDD, that is, (a) onset beyond theage of 2 years of normal development, (b) presence ofautistic-like features, and (c) absence of organic or neu-rological illness.

Efforts were made to bring in greater convergencebetween ICD-10 (WHO, 1992) and DSM-IV (APA,1994) by adopting conceptually similar criteria. Theterm CDD was formally introduced in these systems.DSM-IV criteria were less detailed and operationalizedthan those in ICD-10 (Volkmar et al., 1997). ThoughCDD has now been subsumed under PDDs, yet its def-inition emphasized discontinuity with autism on account

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of a period of normal development. The key definingfeatures of CDD and its relationship with autism are ex-amined further in the following discussion.

EPIDEMIOLOGY

Community-based epidemiological studies arelacking in this area. The only community-based epi-demiological study done so far is by Burd, Fisher, andKerbeshian (1987), which reported a prevalence rate of1 per 100,000. A clinic-based study reported CDD in0.22% of all cases attending a child psychiatric clinicover a 5-year period (Malhotra & Singh, 1993).

Various other clinic-based reports of CDDs de-rived from the samples having broad diagnosis of child-hood psychosis, autistic disorders, developmental dis-orders and so forth reported rates ranging from 1.64%(Volkmar et al, 1994) to 6% (Volkmar & Cohen,1989). Volkmar reported that approximately 106 caseshave been reported in the world to 1997 and a furtherreview to mid-1999 has yielded literature on 20 morecases. However, any considerations on the prevalenceof CDD must take into account the fact that this is arare disorder, perhaps less common than autism. On theother hand, possibility of misdiagnosis, use of differ-ent classificatory systems, and the relative lack of fa-miliarity of clinicians in arriving at the diagnosis (Volk-mar & Rutter, 1995) could have all contributed to a lowfrequency of identified cases. Moreover, the data fromthe developing countries is extremely scarce. Going bythe report of Malhotra and Singh (1993), the actualnumber of cases would be significantly higher consid-ering the population size of these countries. Under thecircumstances, pooling of data from different countriescould generate meaningful cohorts for extensive andlong-term follow-up studies.

Males outnumber females in most studies. Fromthe cases identified by Kurita (1988) and Volkmar(1992), male: female ratio is 3:1 (before 1977) whereasit is 5.5:1 thereafter. Overall, males outnumber femalesby 4:1 (Volkmar et al., 1997). It has been observed thatthe equal or lower male: female ratio in earlier cases(Rapin, 1965) could be attributed to a misdiagnosis ofCDD most commonly as Rett disorder (Hill & Rosen-bloom, 1986).

ONSET AND PROGRESSION

Age at onset (AAO) has been one of the key defin-ing features of the CDD and has been linked with thechanging concept and understanding of CDDs. The min-

imum age at onset was described as 2 1/2 years (Rutteret al., 1969) and 2 years (ICD-9). ICD-10 (WHO, 1992)criteria require a 2-year period of apparently normal de-velopment. Volkmar et al., (1997), in their review of106 cases, had reported a mean AAO of 3.36 years.This, in fact, is in keeping with the age range proposedby Heller (1930), indicating that the cases identified sofar appear to resemble the original concept of CDD. But,at a closer look, the age range has varied from 1.2 years(Evans-Jones & Rosenbloom, 1978) to 9 years (Corbettet al., 1977). However, these reports came up at a timewhen the disorder was construed as disintegrative orpsychotic rather than developmental in nature. Onsetbefore 2 years of age requires consideration of otherpossibilities such as Rett syndrome (in case of females)or the autistic disorders. On the other hand, there is someevidence to suggest that a later AAO is linked with or-ganic or brain dysfunction manifesting with a neuro-logical illness (Corbett et al., 1977; Volkmar 1992;Volkmar et al., 1997). The point to be emphasized hereis that one should be cautious in assigning a diagnosisof CDD straightaway if the AAO is towards the ex-tremes (or not in the common age range of 3 to 5 years).A thorough review of the presentation with detailedevaluation and examination is required before arrivingat a diagnosis.

Some doubts have been expressed on the possi-bility of the illness starting prior to manifest clinicalsymptomatology and on the reliability of parental re-port on the apparently normal development during thefirst 2-3 years of life in children with CDD. Since AAOis the critical feature differentiating CDD from autis-tic disorder, this issue has been carefully examined.(Rogers & Dilalla, 1990; Volkmar, Stier, & Cohen,1985;). It has been observed that children of CDD havea clearly delineated onset and regression, especially for"loss of previously acquired skills" which is absent inautistic disorders.

Although some reports have shown that early de-velopments of such children may show some delays orassociated abnormalities in pregnancy or labor or de-livery (Kurita, 1988; Volkmar, 1992; Volkmar & Cohen,1989;), these are highly nonspecific and insufficient toaccount for the severity of developmental deficits.Thus, in CDD, there is characteristically developmen-tal regression followed by continued developmental dif-ficulties, rather than progressive developmental diffi-culties to start with.

Although there is still lack of clarity about the ageof onset/recognition, normal development till 2 yearsof age is an accepted criterion for diagnosis of CDD.Whenever information on early development is lack-

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ing or there is difficulty in timing the onset of devel-opmental regression, it is better to categorize the con-dition as atypical autism (Volkmar et al., 1997). Twotypes of onset have been seen. More commonly, it isinsidious onset developing over weeks to months andless common is abrupt or acute onset developing overdays to weeks. Occasionally a premonitory phase is ev-ident wherein the child is overactive, restless, anxious,and irritable (Volkmar, 1992).

SYMPTOMATOLOGY AND RELATIONSHIPWITH AUTISM

Clinical description is the best known aspect ofCDD so far. Comprehensive reviews by Kurita (1988),Volkmar (1992), and Volkmar et al., (1997) constitutethe most significant sources of reading about the dis-order. Most case reports (especially those reported after1977) have been based on diagnostic concepts similarto those in ICD-9/ICD-10. Also most of the literatureis from the West with only two reports from develop-ing countries (five cases by Malhotra & Singh, 1993;and one case by Jaydeokar, Bal, & Shah, 1997).

As per the current diagnostic criteria, patients ofCDD would manifest with features indistinguishablefrom autism. However, going by the available data forcases of CDD, it was seen that speech deterioration/losswas universally present followed by social disturbance,stereotypy/resistance to change, overactivity, affectivesymptoms/anxiety, deterioration of self-help skills indecreasing order of frequency (Volkmar et al., 1997).In fact, apart from the prominent regression in acquiredskills, it is the communication disturbance that is themost striking. The loss of speech tends to be so greatthat it is akin to the marked lack of speech developmentseen in autism (Volkmar et al., 1997). Associated fea-tures reported are aggression, agitation, self-injuriousbehavior, fecal smearing (Volkmar & Cohen, 1989) withcompulsive behavior (Malhotra & Singh, 1993). Dete-rioration in social and self-help skills is more markedthan motor skills (Volkmar, 1992, Volkmar et al., 1997).

Although ICD-10 includes a general loss of inter-est in the environment, it has not been commented/reported upon in the available literature. Also, it is im-portant to keep in mind that the cases are diagnosedaccording to certain concept and criteria which patternthe clinical profile of cases. Hence, it is important to payattention to all the symptoms described in the childrenwith CDD rather than look for just the fulfillment ofspecified criteria. This exercise could help in validatingand delineating clinical boundaries of the disorder. An-other exercise that needs to be carried out is to document

the progression, onset, and severity of various skills thatundergo regression which could help in understandingthe natural course of development of CDD.

Since there is a considerable overlap of clinical fea-tures between CDD and autism, consideration can begiven to the possibility that CDD is a variant of autism.Going by the later onset of illness in CDD, it can behypothesized that CDD may be a late-onset variant ofautism. There is considerable evidence to suggest thatearlier the onset of illness, the more severe is the illnessmanifestation; especially during the developmentalyears, for example, childhood onset schizophrenia(Jacobsen & Rapoport, 1998). If such is the case, thenautism should manifest with more severe psycho-pathology than seen in CDD. But evidence available iscontrary (Volkmar & Cohen, 1989, Volkmar & Rutter,1995); CDD is more severe than autism. Additionally,an entity "later-onset autism" has not been found to besimilar to CDD (Volkmar & Cohen, 1989) as CDD ismore severe and exhibits regression of acquired skillswhich is not seen in autism. This raises the other pos-sibility that CDD could be a more severe form of autism.Evidence for the same is available from a few studiesthat compared CDD with autism (Volkmar & Cohen,1989; Volkmar & Rutter, 1995). However this is a con-ceptual question as CDD is described to be associatedwith normal development before onset whereas autism,as per definition, is associated with developmental prob-lems. The relationship between autism and CDD is stillnot clear and continues to be a subject of debate.

Autistic-like features can be seen in several dis-orders. There are reports that children diagnosed as child-hood schizophrenia fulfilled criteria for diagnosis of in-fantile autism in early infancy in 39% and presented withsevere deficits in language and motor development in72% of the cases (Watkins, Asarnow, & Tanguay, 1988).Children with schizotypal disorder met criteria for PDDin 18 out of 20 children reported by Nagy and Szatmari(1986), and are likely to be diagnosed invariably asPDDNOS (Russel, Bott, & Sammons, 1987). Descrip-tion of symbiotic psychosis (Mahler, 1952; Mahler &Gosliner, 1955), though based on psychoanalytic con-cepts, the clinical profile described in the case reportswas very similar to that of autism, that is, extreme am-bivalence, extreme anxiety, aggressive outbursts, pre-occupation with inanimate objects, and marked fantasies.Asperger syndrome although has been considered as amild or less severe form of autism (Gillberg, 1985; Szat-mari, Bartolucci, & Bremner, 1989), clinical and neuro-biological characteristics were reported to be similar toinfantile autism (Gillberg, 1985, 1987, 1989). All theseabove conditions, including CDD, have now been in-cluded under the broad category of PDDs where the uni-

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fying features are typically autistic (qualitative abnor-malities in reciprocal social interaction and in the patternsof communication; restricted, stereotyped, repetitive re-pertoire of interests and activities; in a pervasive man-ner) occurring in early infancy or childhood upto 5 yearsof age (ICD-10). ICD-10 also mentions that there is dis-agreement on the subdivision of this overall group ofPDDs. Thus the differences between CDD and autism canbe considered as operational and not final, which shouldhelp facilitate further research for better validation.

ORGANIC BRAIN PATHOLOGY

CDD has been associated with certain diagnosableneurological conditions such as neurolipidosis (Mala-mud, 1959), tuberous sclerosis (Creak, 1963; Mourid-sen, Rich, & Isager, 1998) subacute sclerosing panen-cephalitis (Mouridsen et al., 1998; Rivinus, Jamison,& Graham, 1975;), metachromatic leukodystrophy,Addision-Schilder disease (Corbett et al., 1977), andseizures (Malhotra & Singh, 1993). The association ofneurological disorders, however, appears an exceptionrather than the rule. However, association of seizuresor EEG abnormality have been documented in abouthalf the cases of CDD (Volkmar et al., 1997). EEG ab-normality is encountered more commonly than actualseizures. Although, the frequency of seizures and EEGabnormality has been reported to be similar in bothCDD and autism, a recent report (Mouridsen et al.,1998) found higher rates of symptomatic epilepsy inCDD. Additionally, it should be noted that seizuresmost commonly develop after the onset of CDD; rarelydo seizures herald the onset (Malhotra & Singh, 1993).

The degree and frequency of mental retardation(MR) encountered in the CDD children has not been de-scribed in as much detail as in autism (Volkmar et al.,1997). On examining the available literature, it was seenthat majority of the children function at an IQ level com-mensurate with severe to profound MR (Evans-Jones &Rosenbloom 1978; Malhotra & Singh, 1993; Volkmar& Cohen, 1989; Volkmar & Rutter, 1995). Although bor-derline IQ was reported by Corbett et al. (1977) in oneof the two cases reported by him, enough attention hasnot been paid to this aspect of the condition. Autism alsohas a strong association with MR (Volkmar et al., 1994).In field trials for DSM-IV autistic disorders, nearly 25%of children with a diagnosis of autism had IQ < 40 com-pared to nearly 60% of patients with CDD indicating atendency for greater frequency as well as severity of MRin CDD than in autism. Certain important observationscan be drawn from the limited literature available, (a) thelater the onset of CDD probably higher the chances of

an associated neurological condition; (b) progressive andrapid deterioration appears to be a feature of this asso-ciation (Volkmar et al., 1997).

The clinical syndrome of CDD can occur in knownneurological conditions, but CDD can also occur with-out it. These organic disorders, if present, are not part ofthe exclusion criteria but these conditions are coded ona different axis in ICD-10 or DSM-IV. Occasional as-sociation with neurological disease may help in provid-ing an insight into the neuropathological basis of CDD.Clinically, sudden onset of regression after a period ofnormal development in a child would raise suspicion re-garding presence of neurological disorder. As CDD isrelatively rare, it would be worthwhile studying the clin-ical and psychological profile of children presenting withknown neurological disorders and to establish presenceof CDD in them. This approach would help in ascer-taining the degree of association between the two.

NEUROBIOLOGY AND GENETICS

Despite over 126 cases reported in literature, thereis complete absence or paucity of information regardingthe neurochemistry, neuropsychology, neuroanatomy,and neurophysiology of CDD (Volkmar et al., 1997).EEG is the only neurophysiological parameter that hasbeen studied in some detail. Additionally, only a sin-gle work is available on the neurochemistry of CDD(Gillberg, Terenius, Hagberg, & Witt-Engerstrom, 1990).The authors reported absence of low levels of CSF beta-endorphins in two children with CDD compared to chil-dren with autism and Rett syndrome.

Family history of children with CDD has generallyrevealed an absence of autism, schizophrenia, or organicillnesses (Burd et al., 1998; Corbett et al., 1977, Evans-Jones & Rosenbloom, 1978). Additionally, informationon the genetic linkage of this condition in extremely lim-ited (Volkmar et al., 1997). There is a need to seriouslyfocus on this issue as it can shed light on its etiology.

STRESS AND CHILDHOOD DISINTEGRATIVEDISORDER

Presence of both medical or psychosocial events hasbeen associated with the onset of CDD. This was firstnoted by Evans-Jones and Rosenbloom (1978); a find-ing found commonly by Volkmar and Cohen (1989) intheir study of 10 cases. In details available for 35 casesafter 1977, psychosocial events were found in 10 cases.Most commonly, birth of a sibling or a family crisis werenoted. Additionally, many cases have been apparentlyassociated with some medical condition (e.g., measles,

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seizures, accidental injury, elective surgery, or hospitaladmission). Although the frequency of association ofsuch events with onset of CDD is somewhat striking, toterm the same as a precipitating event is not fully justi-fied. In fact, such events (especially psychosocial) arecommonly reported in this age group and the associa-tion may be by chance only (Rutter, 1985).

However, even if these events are taken only as aform of stress associated with the onset of CDD, thereis a theoretical possibility that the regression noticed isa consequence of the same. Arnsten (1999) reported thatstress can lead to impairment in functioning of the pre-frontal context (PFC) manifesting in the form of hyper-activity, disorganized, and impulsive behavior and evencognitive deficits.

COURSE AND OUTCOME

Information on the course and outcome of CDDhas been available in detail from 1977 onwards (Volk-mar, 1992). The follow-up period has varied from1.2 years (see Volkmar, 1992) to 32 years (Mouridsenet al., 1998). Developmental regression leading onto se-vere to profound MR is seen in more than 75% of allcases (Volkmar et al., 1997). Commonly, the course isone of minimal to mild improvement (Volkmar &Cohen, 1989). However, static course has also beencommonly observed (Evans-Jones & Rosenbloom,1978). It is only in a few cases that the course is one ofprogressive deterioration (Corbett et al., 1977; Mourid-sen et al., 1998). This type of course is especially re-ported in cases with comorbid neurological illnesses.

Life expectancy appears to be normal with somecases even showing worthwhile degree of improvement(Volkmar et al., 1997). However, it has been noted thatsuch patients tend to be more mute and in residentialplacement as against patients with infantile autism(Volkmar & Rutter, 1995). In a recent study by Mourid-sen et al. (1998), CDD was compared with infantileautism on numerous outcome variables. It was seen thatCDD patients tended to have lower functioning, weremore aloof, and had greater comorbid epilepsy; therebysupporting the notion of a poorer course. Also, 15% oftheir sample of CDD had died as compared to only 3%in the autism group.

ASSESSMENT

Despite the onset being clearly demarcated fromthe premorbid period, CDD requires a detailed assess-ment for the purposes of proper diagnostic labeling and

treatment. A careful, proper and thorough history canhave no substitute. Details of the pregnancy and neo-natal period, early developmental stages, and the gen-eral medical and family health problems is necessary.This should, as far as possible, be supplemented withmovies, videotapes, and baby books for evaluatingclosely the early development and using the same asexternal validating sources of information to parents'reporting (Volkmar et al., 1997). If necessary, anotheroption could be to apply the checklist for Autism inToddlers (CHAT., Baron-Cohen, Allen, & Gillberg,1992); a screening instrument for autistic spectrum dis-orders, thereby reducing the chances of such childrendiagnosed as CDD. Keeping in mind the unusual pres-entation of CDD, detailed information on the pattern andAAO is essential. To supplement the historical infor-mation, observation of the child's play may be helpfulin recording the levels of language, social, and cogni-tive organization, gross and fine motor skills, and prob-lematic or unusual behaviors. As such children have ahigh prevalence of mental retardation, appropriate scalesshould be administered, for example, Reynell Develop-mental language Scales (Reynell & Gruber, 1990),Vineland Adaptive Behavior Scales (Sparrow, Balla, &Cicchetti, 1984) for documenting the level of commu-nication achieved and adaptive behaviors. This will behelpful in the psychoeducational-cum-rehabilitationprogram for such children.

A very important aspect, not to be overlooked, isto assess the degree of engagement and knowledge ofthe parents. Also, it is necessary to evaluate the burdenof care felt by the caregivers as families of such pa-tients experience tremendous social and emotional bur-den (Malhotra & Singh, 1993). If this aspect is nottaken care of, there can be difficulties in ensuring ad-equate treatment for the patients.

Extensive medical investigations have generallynot revealed evidence of abnormality in such cases(Burd et al., 1998; Malhotra & Singh 1993;). Despitethis observation, a detailed workup is necessary espe-cially so if (a) onset of CDD is beyond 6 years, (b) de-terioration is progressive. Table I lists the possible in-vestigations that can be done depending upon theclinical indication.

TREATMENT

There are no fixed guidelines or treatment strate-gies for management of CDD. In the various case re-ports (Burd et al., 1998; Evans-Jones & Rosenbloom,1978; Malhotra & Singh, 1993;), management was

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Table I. Investigation Profile for CDD

Urine examinationComplete haemogramLiver function testS. Calcium/phosphorousSerum lactic acidSerum ammoniaVDRL for syphilisLactate dehydrogeneseUrinalysis

PorphobilinogenAryl sulphatase A activity

HormonalThyroid function testsSynacthen test

CSF analysisCultureElectrophoresis

NeurophysiologicalEEG (sleep, awake)Nerve conduction studiesEvoked potentials (visual, auditory)

NeuropsychologicalIQ assessment

NeuroimagingCT Scan (plain, contrast)MRIOthers (SPECT, PET, fMRI)

MiscellaneousHeavy metal screeningGalactosemia assayPhenlyketonuria assayBrain biopsy (in selected cases)

more symptom-based with numerous psychotropicsbeing tried out. For symptoms of hyperactivity, ag-gression, and overall behavioral control, antipsychotics(e.g., haloperidol) have been tried with mild improve-ment only. Even benzodiazepenes (Evans-Jones &Rosenbloom, 1978), antidepressants, and lithium (Burdet al., 1998) have been employed but with disappoint-ing results. Only recently, clozapine has been tried inthree children with CDD with some effectiveness butleucopenia was observed in one case (Gelly, Chambon,& Marie-Cardine, 1997). Seizures are a common co-occurrence in CDD, treatment for the same is done withantiepileptics; most commonly carbamazepine. Apartfrom the pharmacological measures employed, non-pharmacological techniques such as behavior modifi-cation and special education to help encourage the re-acquisition of the basic adaptive skills (Volkmar et al.,1997) can be applied. Children can be kept at homeby their parents or in the residential settings. The treat-ing clinician should pay attention to the caregivers of

the patients of CDD as the level of burden of care byparents/caregivers is enormous (Malhotra & Singh,1993; Volkmar et al., 1997). Psychoeducation, sup-portive therapy, and induction into support groups arehelpful in dealing with their distress and in channelingefforts towards effective management of their wards.

SUMMARY AND CONCLUSIONS

CDD is one of the rare and severe neuropsychi-atric disorder of childhood occuring during early de-velopmental years and has a poor prognosis. Althoughthere is still controversy about the true nature of thedisorder, partial similarity of its clinical picture withautistic disorders, developmental regression, and oc-casional association with known neurological disorderspoint towards a possible biological basis for the dis-order. Apart from its clinical description, the disorderhas not been studied in any detail. Inclusion of CDDin the official classifications, better understanding anddelineation of autism, advancements in the investigativetechniques would and should facilitate further researchinto this disorder.

Considering the rarity of the disorder, which couldlargely be an artefact of misdiagnosis, further researchby international collaboration and by pooling the casesacross centers could serve as a more useful strategy. Itis very important to undertake studies on neurochem-istry, neurophysiology, neuropathology, genetics, andso forth on the same pattern as for autism. This wouldhelp in the better understanding of not just CDD butalso of the larger processes involved in the pathogen-esis of other related PDDs.

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