Autism Spectrum Disorder (Regressive Autism, Child Disintegrative Disorder)


Article Author:
Saba Mughal


Article Editor:
Abdolreza Saadabadi


Editors In Chief:
David Wood
Andrew Wilt
Hajira Basit


Managing Editors:
Avais Raja
Orawan Chaigasame
Khalid Alsayouri
Kyle Blair
Radia Jamil
Erin Hughes
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Navid Mahabadi
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beenish Sohail
Hajira Basit
Phillip Hynes
Sandeep Sekhon


Updated:
1/27/2019 8:27:17 AM

Introduction

Autism spectrum disorders (ASD) are a group of rapidly growing disabilities. They are characterized by repetitive patterns of behavior, interests, or activities, problems in social interactions. ASD is a complicated neurological disorder that is characterized by behavioral and psychological problems in children. These children become distressed when their surrounding environment is changed because their adaptive capabilities are minimal. The symptoms are present from early childhood and affect daily functioning. Children with ASD have co-occurring language problems, intellectual disabilities, and epilepsy at higher rates than the general population.

Childhood disintegrative disorder, also called disintegrative psychosis and Heller syndrome, is a rare disorder that is categorized under ASD. In the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), childhood disintegrative disorder, along with other types of autism are merged into a single spectrum called autism spectrum disorder. Childhood disintegrative disorder has a relatively late onset and is characterized by regression of previously acquired skills in the areas of social, language, and motor functioning. It is not known what causes this disease, and it is often seen that children who have this disorder have achieved normal developmental milestones before regression of skills. The age at which this disease manifests is variable, but it is typically seen after 3 years of reaching normal milestones. The regression can be so fast that the child may be mindful of it, and in the beginning may even ask what is going on with them. Some children may appear to be responding to hallucinations, but the most common and distinct feature of this disease is that the attained skills are gone.

Many children are already delayed when the disorder becomes apparent, but these delays are not always evident in young children. This condition has been described as a devastating disease that affects both the individual's life and the family.[1]

Etiology

The cause is still not known. The onset is variable. It develops in days to weeks, while in other cases, it develops slowly. It is not known whether epilepsy causes it, but children that have an autism spectrum disorder have an increased risk of having epilepsy.

Childhood disintegrative disorder is associated with the following diseases, particularly if it is late onset:

  • Subacute sclerosing panencephalitis: A chronic infection of the brain by a form of the measles virus. This disease leads to the inflammation of the brain and the death of nerve cells.
  • Tuberous sclerosis (TSC): A genetic disorder. Tumors formation in the brain which is benign. It also affects other organs of the body like eyes, kidneys, heart, skin, and lungs.
  • Leukodystrophy: In this condition, there is maldevelopment of myelin sheath causing white matter in the brain to disintegrate.
  • Lipid storage diseases: Toxic accumulation of excessive fats (lipids) in the brain and nervous system

Epidemiology

Autism spectrum disorder becoming increasingly prevalent, and its prevalence is reported to be 1 in 68. Childhood disintegrative disorder is a rare disease, with only 1.7 in 100,000 cases, and the prevalence of this disease is estimated to be 1 to 2 in 100,000.[2] Childhood disintegrative disorder is an uncommon disorder with its prevalence of 60 times less than that for autistic disorder, estimating a prevalence of 10 per 10,000 for autism.[3]

Childhood disintegrative disorder is 4 times more common in boys than girls.

Pathophysiology

There is no clear-cut pathology of the disease, so the causes of childhood disintegrative disorder are still unknown. Regression occurs in children who have achieved normal developmental milestones, and this regression sometimes occurs very rapidly. This condition develops in days or over time and is most commonly seen in the fourth year of life, but there can be variation. Some consider it to be childhood dementia, indicating that the deposition of amyloid in the brain can be the possible cause of the disease, but this needs to be proven.[3][4]

History and Physical

The symptoms of ASD are usually identified by 2 years of age, and one-third of children experience regression of skills at the same time. The symptoms of childhood disintegrative disorder usually start later, at around 4 years of age. In ASD, regression of skills develops around 2 years of age, while in childhood disintegrative disorder, regression is later, more severe, and more global in extent. Children with childhood disintegrative disorder generally have the worst outcome among individuals with ASD. Their cognitive and communication skills are affected. Most children with childhood disintegrative disorder experience a distinct prodrome characterized by bouts of anxiety and terror with no consistent medical, environmental, or psychosocial triggers.

A child affected with childhood disintegrative disorder shows normal development, and they normally develop age-appropriate verbal and nonverbal communication, as well as social relationships, motor, play, and self-care skills as compared to other same-aged children. However, by 2 to 10 years of age, they almost completely lose their acquired skills in 2 of the following 6 functional areas:

  • Receptive language skills (comprehension of language: Listening and understanding what is communicated)
  • Expressive language skills (being able to produce speech and communicate a message)
  • Social skills and self-care skills
  • Bowel and bladder control
  • Motor skills
  • Play skills

Impairment of function also occurs in social interactions and communications.

The 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) Criteria for Childhood Disintegrative Disorder Diagnosis (WHO)

  • Normal development up to the age of at least 2 years; the presence of normal age-appropriate milestones are achieved in the areas of communication, social relationships, play, and adaptive behavior at age 2 years or later are required for this diagnosis.
  • A definite loss of previously acquired skills at the onset of the disorder. The diagnosis requires a clinically significant loss of skills (and not just a failure to use them in certain situations) in at least 2 of the following areas:
    • Expressive or receptive language
    • Play
    • Social skills or adaptive behavior
    • Bowel or bladder control
    • Motor skills
  • Qualitatively abnormal social functioning, manifest in at least 2 of the following areas:
    • Qualitative abnormalities in reciprocal social interaction (of the type defined for autism)
    • Qualitative abnormalities in communication (of the type defined for autism)
    • Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, including motor stereotypies and mannerisms
    • General loss of interest in objects and the environment
  • The disorder is not attributable to the other varieties of the pervasive developmental disorder acquired aphasia with epilepsy, elective mutism, schizophrenia, Rett syndrome

Evaluation

Children diagnosed with childhood disintegrative disorder rarely reveal an underlying neurological or medical cause. Complete medical and neurological examinations are done and tests to exclude reversible  causes of the condition:

  • Complete blood count
  • Urea and electrolytes/glucose
  • Liver function test
  • Thyroid function test
  • Heavy metal levels
  • HIV testing
  • Urine screening for aminoaciduria
  • Neuroimaging studies (MRI or CT scan)
  • Electroencephalogram (EEG)

These tests are usually done during initial assessment in secondary care. Electroencephalogram (EEG) and neuroimaging studies are done to exclude the alternative diagnosis.

Treatment / Management

Treatment for childhood disintegrative disorder is similar to the treatment of autism. The stress falls on early and excessive educational interventions. Most of the treatment plan is behavior-based and highly structured. Family counseling including educating the parents so that they can follow the child treatments at home is usually part of the overall treatment plan. Therapies in the areas of language, speech, social skills development, occupational, and sensory integration may all be used according to the needs of the individual child. Loss of language, skills related to social interaction and self-care are delirious, and the affected children face ongoing problems in certain areas and require long-term care. Treatment of childhood disintegrative disorder requires behavior therapy, environmental therapy, and medications.

Behavior Therapy

Applied behavioral analysis mainly focuses on methodically training the patient to re-learn self-care, language, and social skills. These treatment programs are designed in such a way that they use a reward system to reinforce acceptable behaviors and discourage trouble behavior. These programs are usually devised by certified professionals in behavior analysis which is then can be used by other healthcare personnel. People from different domains like speech therapists, physical therapists, psychologists and occupational therapists with differing levels of competence can benefit from this. Teachers, parents, and caretakers are advised to use these behavior models at all times.

Environmental Therapy

In the form of sensory enrichment applies augmentation of the sensory experience to improve symptoms in autism, many of which are also present in childhood disintegrative disorder.

Medications

Medications are used to treat the symptoms as they develop during the disease as there is no drug available to cure this disease directly. Antipsychotic medications are used for repetitive behavior patterns and aggression. To control problematic behavior particularly aggression, experts use selective serotonin reuptake inhibitors (SSRIs), stimulants, and other antipsychotics. There is a significant risk of the neuroleptic malignant syndrome with the use of neuroleptic medication. If seizures develop, anticonvulsants are used.

Differential Diagnosis

The differential diagnosis includes any of the other pervasive developmental disorders or causes of learning disability. Other specific diseases that need to be excluded are:

  • Heavy metal poisoning (mercury and lead)
  • Aminoacidurias
  • Hypothyroidism
  • Brain Tumor
  • Organophosphate exposure
  • Seizure disorder (atypical)
  • HIV infection
  • Childhood schizophrenia
  • Other rare  conditions (glycogen storage disorders)
  • Subacute sclerosing panencephalitis
  • Tuberous sclerosis
  • Creutz-Jacob disease/new variant CJD

Prognosis

The prognosis of this disease is very poor, and the outcome is worse as compared with children diagnosed with autism. Once skills are lost, they usually do not return to normal. Only about 20% of children diagnosed with the disorder can speak in sentences again. As adults, most patients with CDD remain dependent on full-time caregivers or are institutionalized. Around 10 years of age, most of the skills are lost. There can be some but very restricted improvement seen in a few of the cases. Over the longitudinal course of the disease, children develop lifelong impairment of behavioral and intellectual functioning. The intellectual function, independence, and adaptive/adjusting skills are extremely affected, with most cases deteriorating to serious mental disability. Kids with this disease are dependent on caregivers for the entire life.[4]

Complications

Epilepsy commonly develops with the risk of seizures that increases throughout childhood and around at adolescence there are maximum chances to get the seizure. The SSRIs and neuroleptics can be used as they may lower the seizure threshold. It has been previously reported that the life expectancy is normal, but mainly due to complications of epilepsy, the mortality of people with autistic spectrum disorders is 2 times that of the general population.

Deterrence and Patient Education

Parents and families who have children diagnosed with an autism spectrum disorder or other chronic diseases face many challenges. These challenges include social isolation, frustrations, a strained relationship, and financial difficulties. Helpful strategies include encouraging families to tell their own stories, thus assisting with emotional processing. The focus on strengthening protective factors such as increasing parents' communication skills, behavioral management, and providing psycho-education for extending parents' understanding of their child's condition and developmental challenges. Other helpful strategies include connecting with others with the same disease, developing an alliance, caring for one's self, and become an advocate. Recommendations for health care providers include understanding the common problems faced by parents; building parent-to-parent connections; and encouraging a good relationship with parents and their children.[5][6]

Pearls and Other Issues

There is no treatment to cure autism spectrum disorder, but early diagnosis and early intensive management have the potential to produce favorable outcomes in all aspects of the disease. The screening tests should be carried out anytime during child development if there are concerns for autism and other pervasive developmental disorders. It is usually done at 18 and 24 months during well-baby visits. The overall basis for management of autism spectrum disorder is 3-fold: (1) improve quality of life maximize function, (2) promote a child’s independence, and (3) maximize function.[1] 

Enhancing Healthcare Team Outcomes

Childhood disintegrative disorder under ASD is a very rare disease. The main feature of this disease is that after achieving age-appropriate milestones, a child's previously acquired skills regress. Unlike autism, seizures are more frequently seen. The cause of this condition is not known, and there is no cure. It is important to recognize this disease and follow up with combined child pediatric and psychiatric assessments. Corticosteroid treatment seems to improve language, motor skills, and behavior in these children. It is important for primary care clinicians, including physician assistants, nurse practitioners, and physicians be familiar with this disease so that appropriate diagnosis and appropriate treatment can be obtained.[7][8] (Level III)


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Autism Spectrum Disorder (Regressive Autism, Child Disintegrative Disorder) - Questions

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A 4-year-old male is found to have echolalia, difficulty in interacting with children his age group, and usually plays by himself with the same toy. He may have which of the following developmental diseases?



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For a diagnosis of autism spectrum disorder, the Diagnostic and Statistical Manual of Mental Disorders V requires that several criteria be present. Which of the following is NOT one of these criteria?



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Which of the following is not a symptom of autism spectrum disorders?



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A 6-year-old girl appears to "be in her own world," ignoring adults and other children. She can entertain herself for hours by spinning around on the floor or playing a specific game. She has never acquired language skills, and she is easily agitated by loud noises. There are no physical deformities, and her physical exam is normal except for some minor coordination issues. What is the recommended therapeutic intervention?



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To make a diagnosis of autism spectrum disorder, which one of the following is not a criterion in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders?



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A 2-year-old boy is brought in by his parent for problem behaviors. He has tantrums that when interrupted result in his withdrawal. He displays ritualistic behavior. What is the most likely diagnosis?



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Which of the following is not a subgroup of neurodevelopmental disorders?



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An autistic child does not like to be touched but is noted to rub objects on his upper and lower extremities. What is the most likely sensory integration disorder?



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An autistic child is noted to flap her left hand in front of her eyes repeatedly. What does this most probably mean?



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Which of the following would be the best way for an OT to do a non-standardized assessment on a young child with autism spectrum disorder?



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An 11-year-old child with autism spectrum disorders (ASD) is being assessed by an occupational therapist for process performance skills. Which activity would be best suited to this evaluation?



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A mother states that her child has severe problems interacting with others and with communication. The provider notes that the child does ritualistic and repetitive behaviors. What is the most likely diagnosis?



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What should be the first step for doing an OT evaluation of a child with autism spectrum disorder?



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A child diagnosed with autism spectrum disorders (ASD) is enrolled in a school using the Treatment and Education of Autistic and Related Communication Handicapped Children curriculum. Which of the following would be consistent with this approach?



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Select the most appropriate visual support for early reading skills in a child with autism.



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A 16 year old male with autism receives OT at school but has not been successful with shaving before school. He lives at home with his mother and sisters. The patient is being teased by the other students. What is the best option for treatment?



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When treating a child with autism spectrum disorders using vestibular stimulation, which of the following would be the least beneficial?



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Which of the following motor problems is not common in children with autism spectrum disorders?



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Which of the following is the most common feeding problem for patients with autism spectrum disorders?



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Which of the following is not typical in patients with autism spectrum disorder?



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At what age does autism have onset?



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Which of the following is the National Institutes of Health's definition of the complex developmental disability that causes problems with social interaction and communication?



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Which of the following is the age when symptoms of autism can usually be observed?



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Which of the following is true of autism?



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Which of the following is a pervasive developmental disorder, causing deficits in social communication and social interaction across multiple contexts?



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Which of the following is too broad to be included in the autism spectrum disorder category?



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Which of the following places children and adults with autism spectrum disorders or other disorders in harmful and potentially life-threatening situations?



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Which of the following tool was found useful based on the findings from the Kennedy Krieger Institute in validating the accurate diagnosis of autism spectrum disorders (ASD) in children with Down syndrome?



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A 9-year-old boy is brought in by his parents who report severe problems with his social skills. He has had normal development of cognition and language but has no friends. He does not make eye contact, has repetitive hand flapping, and cannot identify the interests of his siblings. Physical and neurologic exams are normal. Which of the following is the most likely diagnosis?



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A 5-year-old male is brought to the clinic for an ear infection. The parents mention that they also are concerned that he is no longer talking and developing like he was the first few years of life. It is as if he "went backward." The boy's mother says he no longer wants to play with her or his older brother. He was interested in potty training like his older brother but now has completely lost all bowel control and is back to wearing diapers daily. They had planned on enrolling him in school but are not sure if that is possible. Which of the following is the most likely diagnosis?



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A 7-year-old girl appears to "be in her own world," ignoring adults and other children. She can entertain herself for hours by spinning around on the floor or playing a specific game. She has never acquired language skills, and she is easily agitated by loud noises. There are no physical deformities, and her physical exam is normal except for some minor coordination issues. What is the most likely diagnosis?



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Which is not seen in autistic spectrum disorder?



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A 7-year-old male is brought in for behavior issues. He does not speak but enjoys screaming. He enjoys riding his bike without training wheels, running around the playground, and play video games. He sucks his thumb and likes to put objects in his mouth. Which of the following is not an area that needs to be monitored for this patient?



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A 7-year-old male is brought in for behavior issues. He does not speak but enjoys screaming. He enjoys riding his bike without training wheels, running around the playground, and play video games. He attends a special school where he receives OT, speech therapy, and behavioral services. He sucks his thumb and likes to put objects in his mouth. He only sleeps 2 hours at night. Which of the following would not be an appropriate intervention?



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An 8-year-old with classical autism has started to watch wrestling on television. At school, he pushed a younger child causing him to fall and need medical care. Select the incorrect statement about television.



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An 8-year-old with autistic spectrum disorder awakens at night and smears stool on the wall. Which of the following would not be helpful?



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An 8-year-old with autism spectrum disorders awakens at night and smears stool on the wall. Select the behavioral intervention that would be least helpful.



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A 3-year-old female has poor social and language development. She only knows 5 or 6 words and does not use 2-word combinations. She communicates by pointing and grunting. She does not socialize with other children and plays by herself. The parents are both highly educated, but there is a family history of language development issues. The child can run, ride a tricycle, stack 6 blocks, follow directions, point to body parts, copy a circle, feed and dress herself, and balance on one foot. What is the most likely diagnosis?



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A 3-year-old male has poor social and language development. He only knows 5 or 6 words and does not use 2-word combinations. He communicates by pointing and grunting. He does not socialize with other children and plays by himself. The parents are both highly educated, but there is a family history of language development issues. He was born and raised in the United States and has had all recommended medical care. The child can run, ride a tricycle, stack 6 blocks, follow directions, point to body parts, copy a circle, feed and dress himself, and balance on one foot. Which of the following is the least likely etiology of these findings?



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Which of the following is most likely to be helpful for children with autistic spectrum disorders?



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The parents of a 3-year-old with autism asks about a special diet. Select the correct statement.



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Select the correct statement about secretin and the treatment of autism.



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A 4-year-old with autism spectrum disorders has behavior problems when going to a relative's home or shopping with his parents. He kicks, hits, bites, and screams. What is the best advice for the parents?



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Which of the following is not important to long-term success for patients with autism?



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A 4 year old female is brought to clinic for evaluation of seizures versus tics. The patient is often noted to pick at her skin, flap her arms "like wings," and blink repeatedly. On further history, the patient is very hyperactive and can be hard to control behaviorally. She often becomes upset when there are sudden changes in her schedule and when she has to transition from one activity to another. The patient's pre-K teacher asked the patient to be evaluated for absence seizures given her frequent blinking episodes. Which of the following is the most likely unifying diagnosis?



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An 18-month-old is brought in by her biological parents for a well-child visit. The child appears well nourished, well hydrated, and has maintained her height and weight in the seventy-fifth percentile. During the exam, you ask her parents about how she is doing. The parents describe her as fussy and prone to explosive tantrums when they enter a noisy environment or a brightly lit room. The parents report that she avoids physical contact and prefers to play alone. She is a picky eater and getting her dressed is extremely difficult. She has not yet started talking but will point, grunt, or use signs to communicate with others. What should be done next?



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Which of the following is false regarding childhood disintegrative disorder?



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A 7-year-old child comes in for evaluation of childhood disintegrative disorder. Which of the following neurological diseases commonly develops in patients with this condition?



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Which of the following is true regarding the treatment of childhood disintegrative disorder?



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An 8-year-old boy presented with loss of bladder and bowel control. His parents noticed a significant loss of his language and social skills. He also had one seizure. What is the most likely diagnosis?



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Which of the following is not associated with late-onset child disintegrative disorder?



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Autism Spectrum Disorder (Regressive Autism, Child Disintegrative Disorder) - References

References

Baio J,Wiggins L,Christensen DL,Maenner MJ,Daniels J,Warren Z,Kurzius-Spencer M,Zahorodny W,Robinson Rosenberg C,White T,Durkin MS,Imm P,Nikolaou L,Yeargin-Allsopp M,Lee LC,Harrington R,Lopez M,Fitzgerald RT,Hewitt A,Pettygrove S,Constantino JN,Vehorn A,Shenouda J,Hall-Lande J,Van Naarden Braun K,Dowling NF, Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002). 2018 Apr 27     [PubMed]
Yochum A, Autism Spectrum/Pervasive Developmental Disorder. Primary care. 2016 Jun     [PubMed]
Rosman NP,Bergia BM, Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome. Journal of child neurology. 2013 Dec     [PubMed]
Fombone E, Prevalence of childhood disintegrative disorder. Autism : the international journal of research and practice. 2002 Jun     [PubMed]
Jackson AC,Liang RP,Frydenberg E,Higgins RO,Murphy BM, Parent education programmes for special health care needs children: a systematic review. Journal of clinical nursing. 2016 Jun     [PubMed]
Kratz L,Uding N,Trahms CM,Villareale N,Kieckhefer GM, Managing childhood chronic illness: parent perspectives and implications for parent-provider relationships. Families, systems     [PubMed]
Mordekar SR,Prendergast M,Chattopadhyay AK,Baxter PS, Corticosteroid treatment of behaviour, language and motor regression in childhood disintegrative disorder. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2009 Jul     [PubMed]
Vesterby TS,Thelle TH, [A late debut of childhood disintegrative disorder]. Ugeskrift for laeger. 2015 Jan 12     [PubMed]

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