Autism | Definition, Causes, Symptoms and Management (Pervasive Developmental Disorders (PDD)

Autism | Definition, Causes, Symptoms and Management (Pervasive Developmental Disorders (PDD)

What is Autism?

Autism is characterized by impaired development manifested before the age of 3 years. The disturbances are evident in three areas: reciprocal social interactions, communication and behavior of a restricted, repetitive and stereotypical nature (for example, the child immutably repeats certain movements, certain routines or is interested almost exclusively in certain objects , etc.).

Note: Today, international classifications give up classifying types of autism into broad categories (Kanner, Asperger, TED-NOS, etc.), and have abandoned the long-used notion of “Pervasive Developmental Disorders” (PDD), for the benefit of “Autism Spectrum Disorder” (ASD). But this revision of the terms being recent, and not yet generalized, you will certainly hear these expressions, these names, or this vocabulary during your steps, it is therefore important that you know them.

Causes of Autism

No specific cause is known for autism, but it is generally believed to be likely due to a combination of environmental and genetic factors that are involved in brain development and produce the characteristics of autism. This disorder is certainly not the result of the education received, the social background or the personality of the parents.

Diagnostic criteria

Autism usually appears before the age of three, but it can be diagnosed with certainty in children as young as two years old.

The diagnosis is based on a comprehensive and multidisciplinary approach involving the collection of information from different sources:

Parents – the family genes and developmental history of the child;
Professionals (eg, teams of child psychiatrists and child psychologists) – using standardized assessment tools such as the Autism Diagnostic Observation Schedule (ADOS-G) and Autism Diagnostic Interview – Revised (ADI – R ). Parents and teachers will also complete a behavior checklist to document various behaviors (social interaction, communication, behavior and coping skills);
Auxiliary Professionals – a thorough assessment of cognitive and language functions using appropriate standardized tests;
Diagnostic teams – the family will often be asked to undergo genetic testing to rule out related disorders, such as fragile X syndrome.

Childhood autism

It appears early in childhood then persists at all ages of life. It is characterized by impaired development evident before the age of three years, with characteristic disturbance of functioning in each of the following three domains: reciprocal social interactions, communication, and restricted, repetitive, and stereotyped behavior (for example, the child immutably repeats certain movements, certain routines or is almost exclusively interested in certain objects, etc.).

Other Pervasive Developmental Disorder (PDD)

The main other categories of PDD are atypical autism, Asperger syndrome, Rett syndrome and other childhood disintegrative syndromes and the category “other PDD”. The latter brings together PDDs that are currently difficult to classify.

Three main areas of difficulty: the autism spectrum

1) Communication and language

Language delay or unusual ways of speaking;
Echolalia (immediate repetition of what an interlocutor has just said);
Literal understanding of speech;
Stereotypical and repetitive language;
Speaking too loud or too low;
Unusual rhythm or tone of speech.

2) Reciprocal social interaction

Social avoidance;
Difficulties in social relations;
Avoidance of eye contact;
Difficulty creating and maintaining meaningful relationships;
Difficulty interpreting “social signals”;
Difficulty showing empathy or understanding that others are sick, hurt or unhappy.

3) Behavioral patterns, fields of interest or restricted or repetitive habits

Excessive dependence on habits or resistance to change;
Repetitive and ritualized behaviors;
Intense interest in something, excluding other activities;
Stereotypical and repetitive play;
Unusual attention to detail (eg, a car’s wheels) or specific objects (eg, strong attraction to video tapes or the number of locks in a room).

Other difficulties

Deficiency of intellectual functions;
Angry behavior or little tolerance for frustration;
Motor deficits;
Difficulties with sleep, cleanliness (late learning of continence), and eating (eg, slow or fussy eater);
Sensory hyposensitivity or hypersensitivity – p. eg, hypersensitivity to loud sounds or to particular sounds, attraction or aversion to certain textures, insensitivity to pain;
Attention deficit hyperactivity disorder – see the section on this disorder.

Important strengths of children with autism

Visuospatial memory;
Visual-spatial skills (eg, puzzles);
Faculty of memorization (ability to remember names, dates, facts);
Ability for non-verbal reasoning;
Decoding of texts;
Musical skills (including memory of tunes and perfect pitch);
Other artistic talents (eg, drawing).

How to intervene or cure?

In the current state of science, autism cannot be cured because it is not a disease, but a neurodevelopmental condition. However, a lot of progress can be achieved thanks to early support and specifically adapted care of the “socio-educational and Structured Education” type, whatever the age and level of the person.

As soon as parents are placed on standby for an assessment of their child, they are also placed on a waiting list at the rehabilitation center for intellectual disabilities and pervasive developmental disorders in their region. These centers offer, among other things, stimulation activities that can be done on site, at home and in a childcare setting.

What are the appropriate therapies for autism?

Treating autism means educating. Instead of “therapeutic methods”, we will prefer that of “educational strategies”. If we want to give an autistic person the maximum chance to develop, the support strategies and methodological criteria must be adapted and made to coincide with internationally recognized guidelines.

For this, parents and professionals must understand how the person works and adapt the way they interact with them, which requires solid training. At the same time, if the child was diagnosed before school age, the establishment of an early education program is recommended. Thereafter, an education adapted to his autism should be put in place. This can take place in an ordinary school (integration) or in a specialized school, depending on the child’s abilities. To be effective, support must always be based on an “individualized educational project” (IEP). Education must be structured and the environment must be organized. The course of a day or an activity must be made understandable and predictable. For people who cannot make themselves understood through language, assisted / augmentative communication methods (eg, picture systems (PECS) or electronic aids) should be put in place.

Children with autism have no place in a hospital infrastructure. They can make significant progress as long as the focus is on their particular way of learning and the professionals around them are specifically trained in autism. Therapies that have never been scientifically proven to work only fuel parents’ delusions; some are ineffective and if they do no harm they should not supplant educational strategies, others are abusive, guilty or even dangerous.

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What is PECS?

PECS is a type of Augmentative and Alternative Communication that uses visual symbols to teach the learner to communicate with parents, carers, teachers and peers. The aim is to teach intentional, functional communication and to allow users to communicate their wants and needs.

The PECS approach occurs in 6 phases.

Phase 1 – Teaches the user ‘How to communicate’
Phase 2 – Teaches ‘Distance and persistence’
Phase 3 – Teaches ‘Picture Discrimination’ (although some users develop in Phases 1 & 2)
Phase 4 – Teaches the user to build a ‘Sentence structure’
Phasee 5 and 6 – The later stages include using ‘wait’ and ‘no’ with users and teaches attributes and additional vocabulary.

Treatment and Medication

Treatment

Behavioral therapy, speech therapy, psychotropic medication. Relationship Development Intervention, assertiveness training.

Medication

Antipsychotics, antidepressants, stimulants (associated symptoms)

History

Autism was first described in 1943 by an Austrian-born American child psychiatrist, Leo Kanner, when he had followed eleven children for several years. Since then, the debate on the origin of autism has not ceased among specialists: are we born with autism or do we become? For a long time, the “acquired” track prevailed. But sixty years after Leo Kanner’s description, it was in France that for the first time genetic mutations were identified: a discovery made at the Institut Pasteur by Thomas Bourgeron’s Human Genetics and Cognitive Functions unit, in collaboration with French (Marion Leboyer) and Swedish (Christopher Gillberg) psychiatrists. Today, no one disputes that autism has a very strong genetic component.

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Pervasive Developmental Disorders (PDD)

What is Pervasive Developmental Disorders (PDD)?
Introduction

Pervasive Developmental Disorders (PDD) is a diagnostic term that describes a category of five disorders characterized by functional impairment in three areas, known as the “autism spectrum”:

1) Communication and language
  • Language delay or unusual ways of speaking;
  • Echolalia (immediate repetition of what an interlocutor has just said);
  • Literal understanding of speech;
  • Stereotypical and repetitive language;
  • Speaking too loud or too low;
  • Unusual rhythm or tone of speech.
2) Reciprocal social interaction
  • Social avoidance;
  • Difficulties in social relations;
  • Avoidance of eye contact;
  • Difficulty creating and maintaining meaningful relationships;
  • Difficulty interpreting “social signals”;
  • Difficulty showing empathy or understanding that others are sick, hurt or unhappy.
3) Behavioral patterns, fields of interest or restricted or repetitive habits
  • Excessive dependence on habits or resistance to change;
  • Repetitive and ritualized behaviors;
  • Intense interest in something, excluding other activities
  • Stereotypical and repetitive play;
  • Unusual attention to detail (eg, a car’s wheels) or specific objects (eg, strong attraction to video tapes or the number of locks in a room).
  • According to a recent report by Fombonne (2009), the prevalence rate of all PDDs is 60 to 70 in 10,000, indicating that PDD is one of the most common developmental disorders in children.

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; APA 1994), the five categories of PDD are:

  • Autism
  • Asperger’s syndrome;
  • Pervasive developmental disorder not specified;
  • Rett syndrome;
  • Disintegrative syndrome in the child (Heller’s syndrome).

It is important to note that these disorders may not be genetically related and some may have only behavioral characteristics in common. It is therefore crucial to recognize as quickly as possible the characteristics and impairments specific to each disorder in preschool children so that educational programs that meet the specific needs of the child can be developed.

Some great information tools include the ACT-NOW website. This online resource features information about the various PDDs to help promote understanding of these disorders throughout the community. This website can be accessed by clicking here.

In the section below, we briefly describe the five disorders that are part of ASD. For more information on autism, click here; for more information on Asperger’s syndrome, click here.

Autism

Autism is a serious and complex developmental disorder with an estimated prevalence of 20 in 10,000 children (Fombonne, 2009). Its main characteristics are difficulties in social interaction and communication, as well as a limited repertoire of behaviors, stereotypical and repetitive. For more information on autism, click here.

Asperger’s syndrome

Asperger’s syndrome is a disorder that is often confused with autism, due to the simitudes of certain behaviors. Its prevalence is estimated at 6 cases in 10,000 children (Fombonne, 2009). The main hallmarks of Asperger’s syndrome are a difficulty in acquiring social skills and behaviors that contrasts with clearly good language development and intellectual functioning. For more information on Asperger’s syndrome, click here.

Pervasive developmental disorder not specified

Unspecified Pervasive Developmental Disorder is a somewhat loose category used to describe a range of behaviors that do not necessarily lead to a diagnosis of autism or Asperger’s syndrome, possibly because it occurs at an older age. advanced or because the symptoms do not meet any criteria for a particular PDD. Further, many professionals mistakenly believe that this means that this is still a “mild” (or more like Asperger’s) case, and while this is partly true, it is not. This is not the case with all unspecified pervasive developmental disorders. Therefore, to assume that a student who is diagnosed with an unspecified pervasive developmental disorder will require fewer modifications in school or require fewer services, is unwarranted and may disadvantage the student.

Rett syndrome

Rett syndrome is a rare disorder that only affects girls. Development appears to be normal for the first 6 to 18 months and then regresses. One of the most popular features obvious is the loss of fine motor skills, which is replaced by repetitive twisting movements of the hands. These changes are accompanied by loss of socialization, the appearance of incoordination of gait or trunk movements, and severe impairment of expressive and receptive language development. Communication and social skills problems, common to all PDDs, appear very early in childhood, and their similarities to those of autism and childhood disintegration syndrome can lead to misdiagnosis, in beginnings. There are informative websites, including those of the International Rett Syndrome Foundation and the Ontario Rett Syndrome Association.

Childhood disintegrative syndrome (Heller’s syndrome)

Childhood disintegration syndrome is a rare disorder that appears quite late, often after the age of three, and sometimes even up to the age of 10. The child seems to develop normally during his first three or four years, then loses his previous acquisitions (in the areas of language, motor skills and social skills). Unlike Rett syndrome, which only affects girls, disintegrative child syndrome can affect both boys and girls. Language and communication difficulties are very similar to those with autism, but due to the particular appearance of symptoms and the type of difficulty, this disorder falls into a category of its own.

Fragile X syndrome (FXS) or Martin Bell Syndrome (MBS) causes intellectual disability, behavioral problems, and physical abnormalities

Autism heritability

Experts are now unanimous in recognizing a strong implication of genetic factors. As early as the 1970s, research on twins and more generally on families, in fact revealed the genetic trail in the onset of autism.

Autism heritability is a measure assessing the impact of genetic factors in the onset of autism. In 1998, a study of twins estimated this value at 90%, indicating a major genetic component in the onset of autism.

Since many studies have shown that when a child was autistic, his twin was also in 98% of cases if it was a monozygous twin (that is to say having exactly the same genetic heritage , “True twin”) and in about 50% if he was a dizygotic twin (“false twin”).

However, the synthesis of the studies made showed that this one was complex, and could involve up to 50 different genes. But a 2014 study affirms that this share does not exceed 50%, in equal parts with environmental factors.

Who transmits the autism gene?

The disease is transmitted exclusively or preferably by one of the parents. Typically, genes that are genomically imprinted are inactivated during the development of the egg, or sperm cells, or shortly after fertilization.

Sources: PinterPandai, Mayo Clinic, PubMed, Institut Pasteur (France)

Photo credit: Nothing149 / Wikipedia

Notice:

Information in CleverlySmart.com is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Information in CleverlySmart.com is not intended to replace professional health care. CleverlySmart.com cannot be held responsible for harmful, truncated or erroneous use of any information found in the CleverlySmart.com database.

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