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Childhood disintegrative disorder:

CHILDHOOD DISINTEGRATIVE DISORDER:
A CASE STUDY
Sujoy Kumar Makar
Audiologist and Speech-Language Pathologist
Pamela Samaddar
Audiologist and Speech-Language Pathologist
Sharon Victoria Rout
Internee
AYJNIHH (ERC) KOLKATA -90

Abstract:-
Introduction CDD is a developmental disorder that resembles autism, characterized
by at least two years of normal development, followed by loss of language, social skills, and
motor skills before ten years. Synonyms- Heller's syndrome, dementia infantilis. Aim was to
study audiological, speech and language characteristics of a case with CDD. Methods-
Audiological assessment included BOA, IA, TEOAE. Speech Assessment include REELS,
SIRS, Autistic checklist, CARS for attention. Results moderate level of autistic feature is seen in
child in form of communication deficit and impairment in reciprocal social interaction. No
significant presence of repetitive stereotypic behaviour. CARS indicates moderate level of
attention deficits and hyperactivity. Audiological assessment showed normal hearing. Discussion
Child shows features of autism, however, characteristics disturbances did not occur before the
age of 2 years so it diagnosed as CDD. Conclusion: Since the causes of CDD are unknown,
there are no known ways to prevent this disorder.

Introduction
Childhood disintegrative disorder (CDD), also known as Heller's syndrome and disintegrative psychosis,
is a rare condition characterized by late onset (>3 years of age) of developmental delays in language,
social function, and motor skills.
Thomas Heller, an Austrian educator, first described childhood disintegrative disorder in 1908. It is a
complex disorder that affects many different areas of the child's development. It is grouped with the
pervasive developmental disorders(PDDs) and is related to the better known and more common disorder
of autism.
Initially CDD was considered strictly a medical disorder and was believed to have identifiable medical
causes. After researchers reviewed the reported cases of CDD, however, no specific medical or
neurological cause was found to account for all occurrences of the disorder. For that reason, CDD was
included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, or DSM-IV,
in 1994.
The cause of childhood disintegrative disorder is unknown. Research findings suggest, however, that it
may arise in the neurobiology of the brain. About half the children diagnosed with CDD have an
abnormal electroencephalogram (EEG). EEGs measure the electrical activity in the brain generated by
nerve transmission (brain waves).
CDD is also sometimes associated with seizures, another indication that the neurobiology of the brain
may be involved. Children with CDD have at least two years of normal development in all areas—
language understanding, speech, skill in the use of large and small muscles, and social development. After
this period of normal growth, the child begins to lose the skills he or she has acquired. This loss usually
takes place between ages three and four, but it can happen any time up to age ten.
Studies have not shown much significant association between Childhood Disintegrative Disorder and
deafness. Some authors have reported the association with hearing loss to be up to as low as 25%.
Methods:
A case aged three and a half years came with complaint of speech problem. The child showed slightly
delayed development at 3 years of age and social interactions and communication became severely
restricted. The problem started with sudden social withdrawal and being in his own world. According to
parents report, impaired communication and social interaction, restlessness, disturbed sleep cycle, smiling
to self and self- muttering, learning difficulty, and difficulty in writing. No history of convulsion, head
injury or any other serious medical illness. Milestones like walking and talking delayed. As far as
milestones for speech is concerned; it is reported that the child spoke normally and could say sentences
till about 3 years of age, after which communication became restricted to monosyllables or very simple
sentences.

Audiological assessment included clinical examination and otoscopy. Pure tone audiometry could not be
done as the child was too small instead Behavioural Observation Audiometry was done. Behavioural
Observation audiometry was done using calibrated instruments drum, jhankara, bell other stimuli like
name calling, clapping table banging etc were done. Baby reactometer was used to observe the free field
responses.Impedance testing using GSI 38 Impedance Audiometer.Otoacoustic emission and auditory
Brainstem Evoked Response Audiometry was done to confirm the diagnosis using the MAICO ERO
SCAN and Nicolet MB11 time step standard ABR.The child was not able to follow instructions for play
audiometry.Speech assessment was done using REELS Test by Bzoch & League, Speech Intelligibility
Rating Scale,Autistic Checklist, Conner’s Abbreviated Rating Scale for attention . His speech and
language stimulation were directive type. Oral peripheral examination reveals normal in appearance and
vegetative function reported to be normal. Parameters of voice were perceptually normal. His
suprasegmental aspects were normal except improper/asynchronous pattern of intonation for e.g., imitates
vocalization with low loudness and infrequently varies inflection with high loudness and sometimes
abrupt. His imitation skills were fair.
Results
Audiological evaluation reveals as per Behavioral observation findings and Impedance Audiometry as
shown in Table 1 and Table 2. Otoscopic examination reveals of no occurrence of ongoing or intermittent
episodes of SOM and clear EAC.
CDD is a rare disease, much less common than autism. About 1 in 100,000 children are thought to have
CDD. It is possible, however, that the disorder is under-diagnosed. For a long time, it was thought that
CDD occurred equally among boys and girls. Newer research suggests that it is about four times more
common in boys, and that many girls who were diagnosed with CDD actually had Rett's disorder, a
disorder that shares many of the symptoms of CDD but occurs almost always in girls.
There have been studies reported by Hagsberg & Gottsmen that CDD is also associated with mental
retardation.
The Behavioral observation findings as shown in Table 1
Responses with instrument baby reactometer as per Table 1b
Swp 60 present 0.5 60 present 1.5 50 present 3 50 Mode of response were localization, eye movement, head turning and localization
Table 2b.

OAE and ABR :
both ears pass
Diagnosis: The child was diagnosed as normal hearing sensitivity.
Speech and language Assessment:

REELS Test reveals RLA to be 2yrs and ELA to be one and half year.Speech intelligibility
was rated as 3. He was in exploratory play stage. His attention level was rated 3 (i.e., single channelled
but still difficult to control). According to autistic checklist moderate level of autistic feature is seen in
the child in form of communication deficit and impairment in reciprocal social interaction. However, no
significant presence of repetitive stereotypic behaviour was noticed. Conner’s Abbreviated Rating
Scale
indicates moderate level of attention deficits and hyperactivity in the child. On the basis of above
mentioned features the case was diagnosed as childhood disintegrative disorder. In differential
diagnosis it is to be remembered that although the child does have some features of autism, the
characteristics disturbances did not occur before the age of 2 years.
Psychological Assessment:
Child was diagnosed as mild developmental deficiency.
Discussion
CDD is most commonly diagnosed when the parents of the affected child consult the pediatrician about
the child's loss of previously acquired skills. The doctor will first give the child a medical examination to
rule out epilepsy or other medical conditions such as head trauma or a brain tumor. Following the medical
examinations and tests, the child will be referred to a psychiatrist who specializes in treating children and
adolescents. The psychiatrist will then make the differential diagnosis of CDD.
To be diagnosed with CDD, a child must show loss or regression in at least two of the areas listed below. Usually regression occurs in more than two areas. These are: • receptive language skills (language understanding) expressive language skills (spoken language) bowel or bladder control, if previously established
In this case study the receptive and expressive language age were delayed also the social and motor skills
were also affected.Children with CDD are unable to start conversations with other people and often do
not communicate with nonverbal signals (smiles, gestures, nodding the head, etc.) either. They also lose
interest in playing games and in relationships with other people. They may engage in strange repetitive
behavior, such as bobbing the head up and down, or other repeated movements. These changes must not
be caused by a general medical condition or another diagnosed mental disorder.
Treatment for CDD is very similar to treatment for autism. The emphasis falls on early and
intense educational interventions. Most treatment is behavior-based and highly structured.
Educating the parents is also emphasized in overall treatment plan. Speech and language
therapy, occupational therapy, social skills development, and sensory integration therapy may all
be used according to the needs of the individual child.
Conclusion
CDD must be differentiated from autism and such other specific pervasive developmental disorders as
Rett's disease. It also must be differentiated from schizophrenia. One of the differences between CDD and
other PDDs is that to be diagnosed with CDD, a child must develop normally for at least two years before
loss of skills occurs, and the loss must occur before age ten.
Most adults with CDD remain dependent on full-time caregivers or are institutionalized. Since the causes
of CDD are unknown, there are no known ways to prevent this disorder. Further research is requered to
rehabilitate these types of cases.
REFERENCE
American Psychiatric Association Diagnostic and Statistical Manual of Mental
Disorders
.4th ed. text revised. Washington DC: American Psychiatric Association, 2000.
ental Disorder: Childhood Disintegration Disorder
1999;23(2):185-8.
Belichenko PV, Hagberg B, Dahlström A. Morphological studyneocortical areas in Rett
syndrome. Acta Neuropathol (Berl).1997;93(1):50-61.
Fombonne E. Prevalence of childhood disintegrative disorder. Autism.2002;6(2):149-57
Gottesman II, Gould TD. The endophenotype concept in psychiatry:etymology and strategic
intentions. Am J Psychiatry.2003;160(4):636-45.
Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia,
and loss of purposeful hand use in girls: Rett’s syndrome: report of 35 cases. Ann Neurol.
1983;14(4):471-9.
Hagberg B, Witt-Engerström J. Rett syndrome: a suggested staging system for describing
impairment profile with increasing age towards adolescence. Am J Med Genet. 1986;1:47-59.
Risperidone treatment of children and adolescents with
pervasive developmental disorders: a prospective open-label study. J Am Acad Child Adolesc Psychiatry
1997 May;36(5):685-93.[abstract]
Paper was presented in ISAM 2008, Bhubaneswar

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