Tag Archives: childhood disintegrative disorder

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Childhood Disintegrative Disorder

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Every parent are sure proud when they see their baby learn to crawl, turn over, and walk, achieving developmental milestones. But what if a child suddenly regresses and become very delayed in development? This scenario exist, and this is called childhood disintegrative disorder.

What is childhood disintegrative disorder?

Childhood disintegrative disorder (CDD) also known as Heller’s syndrome and disintegrative psychosis, is a rare developmental disorder characterized by  late onset of developmental delays in language, social function, and motor skills.[1] CDD has some similarity to autism, and is sometimes considered a low-functioning form of it.[1][2][3] CDD is similar to dementia – skills already learned and acquired suddenly disappear and regress; the difference is CDD is occurring in toddlerhood, commonly in 3 years of age.

CDD  was originally described by Austrian educator Theodor Heller in 1908, 35 years before Leo Kanner and Hans Asperger described autism.[1] Heller had previously used the name dementia infantilis for the syndrome.[1][4]

Childhood disintegrative disorder is part of a larger category called autism spectrum disorder. However, unlike autism, someone with childhood disintegrative disorder shows severe regression after several years of normal development and a more dramatic loss of skills than a child with autism does. In addition, childhood disintegrative disorder can develop later than autism does.[5]

What causes CDD?

The cause of CDD is still unknown. There is not enough research on this rare disorder to determine a cause.[6]  It has been linked to brain and nervous system problems.[7]

How common is CDD?

More boys than girls appear to be affected. Childhood disintegrative disorder is perhaps 10 times less common than more strictly defined autism and is estimated to occur in between 1-2 children per 100,000.[8]

What are the symptoms of CDD?

CDD has the following characteristics taken from MedlinePlus[7]:

  • Delay or lack of spoken language
  • Impairment in nonverbal behaviors
  • Inability to start or maintain a conversation
  • Lack of play
  • Loss of bowel and bladder control
  • Loss of language or communication skills
  • Loss of motor skills
  • Loss of social skills
  • Problems forming relationships with other children and family members

Additional symptoms may include the onset of difficulty in the transition to waking from sleep. Social interactions become compromised (as manifested by aggressiveness, tantrums, or withdrawal from peers), as does motor function, resulting in poor coordination and possible awkwardness of gait.[9][10]

Image courtesy of Dreamstime. A toddler with childhood disintegrative disorder (CDD) may regress from walking to clumsy gait and needs support like walker.

Image courtesy of DSM-IV/rickpdx.files.wordpress.com. CDD is under the umbrella of autism spectrum disorders (ASD).

How is CDD diagnosed?

CDD is most commonly diagnosed when the parents of the affected child consult the pediatrician about the child’sloss of previously acquired skills. The doctor will first give the child a medical examination to rule out epilepsy or other medical conditions.[11] The child’shead may also be x rayed to rule out 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.[11]

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[11]:

  • receptive language skills (language understanding)
  • expressive language skills (spoken language)
  • social or self-help skills
  • play with peers
  • motor skills
  • bowel or bladder control, if previously established

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. Parents’ reports of the child’s development, records in baby books, medical records kept by the child’s pediatrician, and home movies are often used to document normal development through the first two years of life.[11]

How is CDD managed?

CDD’s management is similar to other autism spectrum disorder (ASD) management[1]:

  • Behavior therapy: The main aim of Applied Behavior Analysis (ABA) is to systematically teach the child to relearn language, self-care and social skills. The treatment programs designed in this respect “use a system of rewards to reinforce desirable behaviors and discourage problem behavior.” ABA programs may be designed by a board-certified specialist in behavior analysis called a “BCBA” (Board Certified Behavior Analyst), but ABA is also widely used by a number of other health care personnel from different fields like psychologists, speech therapists, physical therapists and occupational therapists with differing levels of expertise. Parents, teachers and caregivers are instructed to use these behavior therapy methods at all times.[1]
  • Environmental Therapy: Sensory Enrichment Therapy uses enrichment of the sensory experience to improve symptoms in autism, many of which are common to CDD.[1]
  • Medications: There are no medications available to directly treat CDD. Antipsychotic medications are used to treat severe behavior problems like aggressive stance and repetitive behavior patterns. Anticonvulsant medications are used to control seizures.[1]

What is the prognosis of CDD?

The outlook for this disorder is poor. Most children with the condition have an impairment similar to that of children with severe autism by age 10.[7]

  • Effects on intellectual function, self-sufficiency and adaptive skills are profound, with most cases regressing to severe intellectual disability.[12]
  • Medical co-morbidities such as epilepsy commonly develop.[12]
  • Those with moderate-to-severe mental intellectual disability or with an inability to communicate tend to do worse than those left with a higher IQ and some verbal communication.[12]
  • Outlook is poor. Children will require lifelong support.[12]
  • Risk of seizures increases throughout childhood, peaking at adolescence, and seizure threshold may be lowered by SSRIs and neuroleptics.[12]
  • Life expectancy has previously been reported as normal. However, more recent studies suggest that mortality of people with autistic spectrum disorders is twice that of the general population, mainly due to complications of epilepsy.[12][13]

Because CDD is a rare condition, differential diagnoses are ruled out first before considering CDD as a disorder[12]:

The differential diagnosis incudes any of the other pervasive developmental disorders (autistic spectrum disorder, Rett’s Syndrome, PDD-NOS) or causes of general learning disability. Other specific conditions which need to be ruled out are[12]:

48421855

Image courtesy of thescrewjack.com. On the autism spectrum scale, CDD is considered the most severe form of ASD.

CDD is one of the most devastating developmental disorders. This really require awareness, acceptance, and support from all those involved – parents, family, medical personnel, and the community at large. Even if the child with CDD cannot speak, still show unconditional love for her and surely she will thank you for loving her no matter what.

Reference:

  1. https://en.wikipedia.org/wiki/Childhood_disintegrative_disorder
  2. McPartland J, Volkmar FR (2012). “Autism and related disorders”. Handb Clin Neurol 106: 407–18.doi:10.1016/B978-0-444-52002-9.00023-1.PMID 22608634.
  3. Venkat A, Jauch E, Russell WS, Crist CR, Farrell R (August 2012). “Care of the patient with an autism spectrum disorder by the general physician”. Postgrad Med J 88 (1042): 472–81. doi:10.1136/postgradmedj-2011-130727. PMID 22427366.
  4. Mouridsen SE (June 2003). “Childhood disintegrative disorder”. Brain Dev. 25 (4): 225–8.doi:10.1016/s0387-7604(02)00228-0. PMID 12767450.
  5. http://www.mayoclinic.org/diseases-conditions/childhood-disintegrative-disorder/basics/definition/con-20026858
  6. http://www.mayoclinic.org/diseases-conditions/childhood-disintegrative-disorder/basics/causes/con-20026858
  7. http://www.nlm.nih.gov/medlineplus/ency/article/001535.htm
  8. http://childstudycenter.yale.edu/autism/information/cdd.aspx
  9. http://emedicine.medscape.com/article/916515-overview
  10. Volkmar FR, State M, Klin A. Autism and autism spectrum disorders: diagnostic issues for the coming decade. J Child Psychol Psychiatry. 2009 Jan. 50(1-2):108-15.
  11. http://www.minddisorders.com/Br-Del/Childhood-disintegrative-disorder.html
  12. http://patient.info/doctor/childhood-disintegrative-disorder-hellers-syndrome
  13. Mouridsen SE, Bronnum-Hansen H, Rich B, et al; Mortality and causes of death in autism spectrum disorders: an update. Autism. 2008 Jul;12(4):403-14. doi: 10.1177/1362361308091653
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Autism-Related Disorders and the DSM-5 Change

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Autism Spectrum Disorder is a general umbrella term for a neurodevelopmental condition with deficits in social interaction and communication, stereotyped or repetitive behaviors and interests, sensory issues, and in some cases, cognitive delays.[1] IT is called an “umbrella” because it encompasses some of the neurodevelopmental disorders with the same symptoms in a continuum. They are as follows (from severe to mild):

  • Rett’s Syndrome
  • Autistic Disorder
  • Childhood Disintegrative Disorder
  • Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS)
  • Atypical Autism
  • Asperger’s Syndrome

The “common” autism that most of us know is the Autistic disorder, where the child who has it has all the classic symptoms of autism and is non-verbal. But there are also “milder” versions or milder disorders similar to the autistic disorder like Asperger’s syndrome and a genetic disorder similar also to autism like Rett’s syndrome (for my general article in autism, click here). However, due to the overlapping symptoms and misuse of these disorders led the American Psychiatric Association revised their Diagnostic and Statistical Manual of Mental Disorders (DSM) and remove these autism-related disorders and instead absorbed them into the umbrella term “autism spectrum disorder.”[2] However, the World Health Organization’s disease manual, International Classification of Diseases (ICD), did not remove these disorders, but placed them under the general category of “Pervasive Developmental Disorders.”[3]

DSM-IV (the fourth edition) has this list of autism and its related disorders[4]:

The following is the ICD-10’s equivalent of autism spectrum disorders[3]:
F84 Pervasive developmental disorders
  • F84.0 Childhood autism
  • F84.1 Atypical autism
    • .10 Atypicality in age of onset
    • .11 Atypicality in symptomatology
    • .12 Atypicality in both age of onset and symptomatology
  • F84.2 Rett’s syndrome
  • F84.3 Other childhood disintegrative disorder

F84.4 Overactive disorder associated with mental retardation and stereotyped movements

  • F84.5 Asperger’s syndrome
  • F84.8 Other pervasive developmental disorders
  • F84.9 Pervasive developmental disorder, unspecified

Whereas, the DSM-5 has now its criteria for autism spectrum disorders, according to severity[5]:

Autism Spectrum Disorder           299.00 (F84.0)

Diagnostic Criteria

A.      Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive, see text):

1.       Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

2.       Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.

3.       Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

Specify current severity:

Severity is based on social communication impairments and restricted repetitive patterns of behavior (see Table 2).

B.      Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):

1.       Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

2.       Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat food every day).

3.       Highly restricted, fixated interests that are abnormal in intensity or focus (e.g, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interest).

4.       Hyper- or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior (see Table 2).

C.      Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).

D.      Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

E.       These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.

Specify if:
With or without accompanying intellectual impairment
With or without accompanying language impairment
Associated with a known medical or genetic condition or environmental factor
(Coding note: Use additional code to identify the associated medical or genetic condition.)
Associated with another neurodevelopmental, mental, or behavioral disorder
(Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s].)
With catatonia (refer to the criteria for catatonia associated with another mental disorder, pp. 119-120, for definition) (Coding note: Use additional code 293.89 [F06.1] catatonia associated with autism spectrum disorder to indicate the presence of the comorbid catatonia.)

Table 2  Severity levels for autism spectrum disorder

Severity level Social communication Restricted, repetitive behaviors
Level 3
“Requiring very substantial support”
Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning, very limited initiation of social interactions, and minimal response to social overtures from others. For example, a person with few words of intelligible speech who rarely initiates interaction and, when he or she does, makes unusual approaches to meet needs only and responds to only very direct social approaches
Inflexibility of behavior, extreme difficulty coping with change, or other restricted/repetitive behaviors markedly interfere with functioning in all spheres. Great distress/difficulty changing focus or action.
Level 2
“Requiring substantial support”
Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions; and reduced or  abnormal responses to social overtures from others. For example, a person who speaks simple sentences, whose interaction is limited  to narrow special interests, and how has markedly odd nonverbal communication.
Inflexibility of behavior, difficulty coping with change, or other restricted/repetitive behaviors appear frequently enough to be obvious to the casual observer and interfere with functioning in  a variety of contexts. Distress and/or difficulty changing focus or action.
Level 1
“Requiring support”
Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful response to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communication but whose to- and-fro conversation with others fails, and whose attempts to make friends are odd and typically unsuccessful.
Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence

Hmmm… But what’s the implication of removing milder forms of autism in the DSM-5?

The separate diagnoses of autistic disorder, PDD-NOS, and Asperger syndrome is no longer applicable. Meaning, only the autism spectrum disorder (ASD) is applied regardless of severity. ASD is the new single diagnosis of all forms of autism. The DSM also removed Rett’s syndrome because it is a genetic/chromosomal disorder and is similar to other chromosomal disorders like fragile X syndrome, tuberous sclerosis, or Down syndrome[6] and it has a known molecular etiology.[6][7] However, there will be a conflict when the DSM is compared to the ICD, where Rett’s syndrome is still under pervasive developmental disorders, and Asperger’s syndrome is not yet removed. Overlapping diagnoses of ASD or PDD will be still common.

Another problem that DSM-5 changes may bring is the acceptance among people with milder forms of autism. Since disorders like Asperger’s and PDD-NOS are eliminated, they are now confused with autistic disorder; some people even protested against the DSM’s changes. Patients and parents alike became anxious about these change. This anxiety ranges from a mild concern on the part of some parents to angry protest: More than 8,000 people signed an online petition circulated by the Global and Regional Asperger’s Syndrome Partnership; another petition sponsored by Asperger’s Association of New England received 5,400 signatures.[8]

But why is the DSM-5 has changed criteria for diagnosing ASD (if it causes confusion and anxiety to the autism community)?

Experts from APA have this explanation about DSM-5 changes in a Slate magazine article:

The logic behind the changes seems sound. “There wasn’t any evidence after 17 years that [the DSM-IV diagnoses] reflected reality,” says Bryan King, director of Seattle Children’s Autism Center, who served on the APA task force charged with revamping the diagnosis. “There was no consistency in the way Asperger’s or PDD-NOS was applied.” In fact, a 2011 study by Catherine Lord (another member of the task force) and more than 35 colleagues reported, “In these 12 university-based sites, with research clinicians selected for their expertise in ASD and trained in using standardized instruments, there was great variation in how best-estimate clinical diagnoses within the autism spectrum (i.e., autistic disorder, PDD-NOS, Asperger’s disorder) were assigned to individual children.”[8]

This argument sounds right, but some experts don’t agree because milder forms of autism has more subtle symptoms than the autistic disorder, and most countries don’t even recognize milder autism forms because people with these conditions can be verbal and independent (but still with social and communication deficits).

Another quote from Slate[8]:

Certain states provide services for children diagnosed with autism but not for those diagnosed with Asperger’s. “It was difficult to get kids with Asperger’s services because their deficits can be subtle, so they were left on their own to some degree,” says Matthew Siegel, director of the Developmental Disorders Program at Spring Harbor Hospital in Maine. And it’s not just those with Asperger’s who have been shortchanged by the current system, says Stewart Newman, who treats kids from all parts of the spectrum at Mind Matters PC in Oregon. He has spent many hours advocating for his patients with educators who had “a lack of clarity about what the diagnosis of PDD-NOS in particular meant, and how the children should be characterized for special services.”

Parents of children with autistic disorder are now worried about integrating higher functioning children with the low functioning ones; hence, blurring of the distinction of the severe and milder form of autism spectrum disorders.

Parents of lower-functioning kids are also concerned about how the influx of high-functioning individuals will affect the public’s perception of autism—mainly because they feel autism is a serious disorder that people should associate with profound disability. One mother commented online that “the proposed DSM change would diminish the enormity of the challenges that those with moderate to severe autism have.” Ursitti, who has a daughter with Asperger’s and a son with severe autism, feels this is already happening: “If we have this national perspective that autism is a blessing, that it’s not a crisis, the ones who will lose out are the expensive ones, the severe ones. Legislators focus on the cheapest option, and celebration is cheaper than treatment.”[8]

That parent’s comment is right, this change may lessen the severity of autism symptoms and may forget the classic autism and will only recognize milder forms of autism.

Not good. But somehow, the DSM has its autism spectrum severity scale from 1 (mild) to 3 (severe).

What is my opinion about the DSM-5 change?

I really do not know my standing about the changes in the DSM-5. But I find the ICD-10 more accurate than the DSM-5. I wish APA never eliminated autism-related disorders and integrated them into the umbrella of ASD, though I slightly agree with their elimination of Rett’s syndrome because it is chromosomal, but it has still autism-like symptoms. But with the removal of autism-related disorders, laymen will never know milder forms of autism (particularly in my native Philippines) and also the public will never know the internal struggles of people with milder autism and other pervasive developmental disorders and may only trivialize people with autism as either mutes or eccentric geeks, without seeing

Reference:

  1. https://en.wikipedia.org/wiki/Autism_spectrum
  2. http://www.dsm5.org/Documents/Autism%20Spectrum%20Disorder%20Fact%20Sheet.pdf
  3. http://www.who.int/classifications/icd/en/GRNBOOK.pdf?ua=1
  4. https://en.wikipedia.org/wiki/DSM-IV_codes
  5. https://www.autismspeaks.org/what-autism/diagnosis/dsm-5-diagnostic-criteria
  6. https://en.wikipedia.org/wiki/Rett_syndrome
  7. Abbeduto, Leonard; Ozonoff, Susan; Thurman, Angela John; McDuffie, Angela; Schweitzer, Julie. Hales, Robert; Yudofsky, Stuart; Robert, Laura Weiss, eds. Chapter 8. Neurodevelopmental Disorders, The American Psychiatric Publishing Textbook of Psychiatry (6 ed.). Arlington, VA: American Psychiatric Publishing. ISBN 978-1-58562-444-7. Retrieved 11 March 2015.
  8. http://www.slate.com/articles/health_and_science/medical_examiner/2013/05/autism_spectrum_diagnoses_the_dsm_5_eliminates_asperger_s_and_pdd_nos.html

Further Reading:

  1. http://raisingchildren.net.au/articles/dsm-5_changes_to_autism_diagnosis.html