Symptoms of PDD may include behavioral and communication problems such as:

- Difficulty using and understanding language.

- Difficulty relating to people, objects, and events; for example, lack of eye contact, pointing behavior, and lack of facial responses.

- Unusual play with toys and other objects.

- Difficulty with changes in routine or familiar surroundings.

- Repetitive body movements or behavior patterns, such as hand flapping, hair twirling, foot tapping, or more complex movements.

- Inability to cuddle or be comforted.

- Difficulty regulating behaviors and emotions, which may result in temper tantrums, anxiety, and aggression.

- Emotional breakdowns.

Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident as well. Unusual responses to sensory information – loud noises, lights – they also are common.

It is common for individuals with PDD-NOS to have more intact social skills and a lower level of intellectual deficit than individuals with other PDDs. Characteristics of many individuals with PDD-NOS are:

- Communication difficulties (e.g., using and understanding language)

- Difficulty with social behavior

- Difficulty with changes in routines or environments

- Uneven skill development (strengths in some areas and delays in others)

- Unusual play with toys and other objects

- Repetitive body movements or behavior patterns

- Preoccupation with fantasy, such as imaginary friends in childhood

Under the DSM-5, autism is characterized by persistent deficits in social communication and interaction across multiple contexts, as well as restricted, repetitive patterns of behavior, interests, or activities. These deficits are present in early childhood, and lead to clinically significant functional impairment. There is also a unique form of autism called autistic savantism, where a child can display outstanding skills in music, art, and numbers with no practice. Because of its relevance to different populations, self-injurious behaviors (SIB) are not considered a core characteristic of the ASD population however approximately 50% of those with ASD take part in some type of SIB (head-banging, self-biting) and are more at risk than other groups with developmental disabilities.

Other characteristics of ASD include Restricted and Repetitive Behaviors (RRBs) which include a large range of specific gestures and acts, it can even include certain behavioral traits as defined in the Diagnostic and Statistic Manual for Mental Disorders.

Asperger syndrome was distinguished from autism in the DSM-IV by the lack of delay or deviance in early language development. Additionally, individuals diagnosed with Asperger syndrome did not have significant cognitive delays. PDD-NOS was considered "subthreshold autism" and "atypical autism" because it was often characterized by milder symptoms of autism or symptoms in only one domain (such as social difficulties).

The DSM-5 eliminated the four separate diagnoses: Asperger Syndrome, Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS), Childhood Degenerative Disorder, and Autistic Disorder and combined them under the diagnosis of Autism Spectrum Disorder.

Autism is a highly variable neurodevelopmental disorder that first appears during infancy or childhood, and generally follows a steady course without remission. People with autism may be severely impaired in some respects but normal, or even superior, in others. Overt symptoms gradually begin after the age of six months, become established by age two or three years, and tend to continue through adulthood, although often in more muted form. It is distinguished not by a single symptom, but by a characteristic triad of symptoms: impairments in social interaction; impairments in communication; and restricted interests and repetitive behavior. Other aspects, such as atypical eating, are also common but are not essential for diagnosis. Autism's individual symptoms occur in the general population and appear not to associate highly, without a sharp line separating pathologically severe from common traits.

Autistic individuals can display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R) categorizes as follows.

- Stereotyped behaviors: Repetitive movements, such as hand flapping, head rolling, or body rocking.

- Compulsive behaviors: Time-consuming behaviors intended to reduce anxiety that an individual feels compelled to perform repeatedly or according to rigid rules, such as placing objects in a specific order, checking things, or hand washing.

- Sameness: Resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted.

- Ritualistic behavior: Unvarying pattern of daily activities, such as an unchanging menu or a dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors.

- Restricted interests: Interests or fixations that are abnormal in theme or intensity of focus, such as preoccupation with a single television program, toy, or game.

- Self-injury: Behaviors such as eye-poking, skin-picking, hand-biting and head-banging.

No single repetitive or self-injurious behavior seems to be specific to autism, but autism appears to have an elevated pattern of occurrence and severity of these behaviors.

In the United States, a revision to autism spectrum disorder (ASD) was presented in the "Diagnostic and Statistical Manual of Mental Disorders" version 5 (DSM-5), released May 2013. The new diagnosis encompasses previous diagnoses of autistic disorder, Asperger's disorder, childhood disintegrative disorder, and PDD-NOS. Compared with the DSM-IV diagnosis of autistic disorder, the DSM-5 diagnosis of ASD no longer includes communication as a separate criterion, and has merged social interaction and communication into one category. Slightly different diagnostic definitions are used in other countries. For example, the ICD-10 is the most commonly-used diagnostic manual in the UK and European Union.

Rather than categorizing these diagnoses, the DSM-5 has adopted a dimensional approach to diagnosing disorders that fall underneath the autism spectrum umbrella. Some have proposed that individuals on the autism spectrum may be better represented as a single diagnostic category. Within this category, the DSM-5 has proposed a framework of differentiating each individual by dimensions of severity, as well as associated features (i.e., known genetic disorders, and intellectual disability).

Another change to the DSM includes collapsing social and communication deficits into one domain. Thus, an individual with an ASD diagnosis will be described in terms of severity of social communication symptoms, severity of fixated or restricted behaviors or interests, and associated features. The restricting of onset age has also been loosened from 3 years of age to "early developmental period", with a note that symptoms may manifest later when social demands exceed capabilities.

Autism forms the core of the autism spectrum disorders. Asperger syndrome is closest to autism in signs and likely causes; unlike autism, people with Asperger syndrome usually have no significant delay in language development, according to the older DSM-4 criteria. PDD-NOS is diagnosed when the criteria are not met for a more specific disorder. Some sources also include Rett syndrome and childhood disintegrative disorder, which share several signs with autism but may have unrelated causes; other sources differentiate them from ASD, but group all of the above conditions into the pervasive developmental disorders.

Autism, Asperger syndrome, and PDD-NOS are sometimes called the "autistic disorders" instead of ASD, whereas autism itself is often called "autistic disorder", "childhood autism", or "infantile autism". Although the older term "pervasive developmental disorder" and the newer term "autism spectrum disorder" largely or entirely overlap, the earlier was intended to describe a specific set of diagnostic labels, whereas the latter refers to a postulated spectrum disorder linking various conditions. ASD is a subset of the broader autism phenotype (BAP), which describes individuals who may not have ASD but do have autistic-like traits, such as avoiding eye contact.

As a pervasive developmental disorder, Asperger syndrome is distinguished by a pattern of symptoms rather than a single symptom. It is characterized by qualitative impairment in social interaction, by stereotyped and restricted patterns of behavior, activities and interests, and by no clinically significant delay in cognitive development or general delay in language. Intense preoccupation with a narrow subject, one-sided verbosity, restricted prosody, and physical clumsiness are typical of the condition, but are not required for diagnosis. Suicidal behavior appears to occur at rates similar to those without ASD.

A lack of demonstrated empathy affects aspects of communal living for persons with Asperger syndrome. Individuals with AS experience difficulties in basic elements of social interaction, which may include a failure to develop friendships or to seek shared enjoyments or achievements with others (for example, showing others objects of interest), a lack of social or emotional reciprocity (social "games" give-and-take mechanic), and impaired nonverbal behaviors in areas such as eye contact, facial expression, posture, and gesture.

People with AS may not be as withdrawn around others, compared with those with other, more debilitating forms of autism; they approach others, even if awkwardly. For example, a person with AS may engage in a one-sided, long-winded speech about a favorite topic, while misunderstanding or not recognizing the listener's feelings or reactions, such as a wish to change the topic of talk or end the interaction. This social awkwardness has been called "active but odd". This failure to react appropriately to social interaction may appear as disregard for other people's feelings, and may come across as insensitive. However, not all individuals with AS will approach others. Some of them may even display selective mutism, speaking not at all to most people and excessively to specific people. Some may choose only to talk to people they like.

The cognitive ability of children with AS often allows them to articulate social norms in a laboratory context, where they may be able to show a theoretical understanding of other people's emotions; however, they typically have difficulty acting on this knowledge in fluid, real-life situations. People with AS may analyze and distill their observations of social interaction into rigid behavioral guidelines, and apply these rules in awkward ways, such as forced eye contact, resulting in a demeanor that appears rigid or socially naive. Childhood desire for companionship can become numbed through a history of failed social encounters.

A pervasive developmental disorder not otherwise specified (PDD-NOS) is one of the four autism spectrum disorders (ASD) and also one of the five disorders classified as a pervasive developmental disorder (PDD). According to the DSM-IV, PDD-NOS is a diagnosis that is used for "severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific PDD" or for several other disorders. PDD-NOS is often called atypical autism, because the criteria for autistic disorder are not met, for instance because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these. Even though PDD-NOS is considered milder than typical autism, this is not always true. While some characteristics may be milder, others may be more severe.

In the third edition of the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-III), SDD was opposed to the pervasive developmental disorders (PDD). There were two factors that were considered:

- The specificity of the impairment: in SDD there is one single domain that is affected, whereas in PDD multiple areas of functioning are affected.

- The nature of the impairment: development in SDD is delayed but not otherwise abnormal, whereas in PDD there are behavioral deviations that are not typical for any developmental stage.

In the fourth edition of the DSM specific developmental disorders are no longer grouped together. Instead they are reclassified as communication disorders, learning disorders, and motor skills disorders.

The tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) has four categories of specific developmental disorder: specific developmental disorders of speech and language, specific developmental disorders of scholastic skills, specific developmental disorder of motor function, and mixed specific developmental disorder.

The current diagnostic criteria for MCDD are a matter of debate due to it not being in the DSM-IV or ICD-10. Various websites contain various diagnostic criteria. At least three of the following categories should be present. Co-occurring clusters of symptoms must also not be better explained by being symptoms of another disorder such as experiencing mood swings due to autism, cognitive difficulties due to schizophrenia, and so on. The exact diagnostic criteria for MCDD remain unclear but may be a useful diagnosis for people who do not fall into any specific category. It could also be argued that MCDD is a vague and unhelpful term for these patients.

Because these are frequently found in cases of autistic disorders, criteria could be met for multiple neurological disorders, or cause severe symptoms.

Some examples include:

1. Learning difficulties symptoms such as dyslexia, dysgraphia, dyscalcula, NVLD, slow learning, poor memory, etc.

2. AD/HD symptoms such as poor concentration, poor decision making, poor judgement, impulsiveness, difficulty sitting still, etc.

3. Synesthesia.

4. Neurological sleep disorders such as narcolepsy, insomnia, circadian rhythm disorder, etc.

5. Conditions affecting perceptions and/or cognition, such as agnosia, aphasia, etc.

6. Tourette syndrome or Tic disorder.

7. Epilepsy or Seizure disorder.

8. Parkinsonian syndrome features such as tremors, stiff movements, etc.

This is an ill-defined disorder of uncertain nosological validity. The category is included here because of the evidence that children with moderate to severe intellectual disability (IQ below 35) who exhibit major problems in hyperactivity and inattention frequently show stereotyped behaviours; such children tend not to benefit from stimulant drugs (unlike those with an IQ in the normal range) and may exhibit a severe dysphoric reaction (sometimes with psychomotor retardation) when given stimulants; in adolescence the overactivity tends to be replaced by underactivity (a pattern that is not usual in hyperkinetic children with normal intelligence). It is also common for the syndrome to be associated with a variety of developmental delays, either specific or global. The extent to which the behavioural pattern is a function of low IQ or of organic brain damage is not known, neither is it clear whether the disorders in children with mild intellectual disability who show the hyperkinetic syndrome would be better classified here or under F90.- (Hyperkinetic disorders); at present they are included in F90-.

Diagnostic guidelines

Diagnosis depends on the combination of developmentally inappropriate severe overactivity, motor stereotypies, and moderate to severe intellectual disability; all three must be present for the diagnosis. If the diagnostic criteria for F84.0 (childhood autism), F84.1 (atypical autism) or F84.2 (Rett's syndrome) are met, that condition should be diagnosed instead.

Pathological demand avoidance (PDA) is a proposed subtype of autism characterized by an avoidance of demand-framed requests by an individual. It was proposed in 1980 by the UK child psychologist Elizabeth Newson. The Elizabeth Newson Centre in Nottingham, England carries out assessments for the NHS, local authorities and private patients around autism spectrum disorder, which include, but are not exclusively PDA.

PDA behaviours are consistent with autism, but have differences from other autism subtypes diagnoses. It is not recognised by either the DSM-5 or the .

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, especially in "language, mobility, learning, self-help, and independent living". Developmental disabilities can be detected early on, and do persist throughout an individual's lifespan. Developmental disability that affects all areas of a child's development is sometimes referred to as global developmental delay.

Most common developmental disabilities:

- Down syndrome is a condition in which people are born with an extra copy of chromosome 21. Normally, a person is born with two copies of chromosome 21. However, if they are born with Down syndrome, they have an extra copy of this chromosome. This extra copy affects the development of the body and brain, causing physical and mental challenges for the individual.

- Fragile X syndrome (FXS) is thought to cause autism and intellectual disability, usually among boys.

- Pervasive developmental disorders (PDD) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges.

- Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy.

- Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood.

- Intellectual disability, also (sometimes proscriptively) known as mental retardation, is defined as an IQ below 70 along with limitations in adaptive functioning and onset before the age of 18 years.

Overactive disorder associated with mental retardation and stereotyped movements is a pervasive developmental disorder (PDD) listed in Chapter V(F) of the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10); its diagnostic code is F84.4.

Pathological Demand Avoidance is not recognised by the DSM-5 or ICD-10, the two main classification systems for mental disorder.

To be recognized a sufficient amount of consensus and clinical history needs to be present, and as a newly proposed condition PDA had not met the standard of evidence required at the time of recent revisions. In April 2014 the UK Minister of State for Care and Support Norman Lamb stated that the Department of Health, "In the course of the development of the National Institute for Health and Care Excellence (NICE) clinical guideline on the treatment of autism in children and young people (CG128), the developers looked at differential diagnoses for autism. In this, they did consider PDA, identifying it as a particular subgroup of autism that could also be described as oppositional defiant disorder (ODD). The guidance recommends that consideration should be given to differential diagnoses for autism (including ODD) and whether specific assessments are needed to help interpret the autism history and observations. However, due to the lack of evidence and the fact that the syndrome is not recognised within the DSM or ICD classifications, NICE was unable to develop specific recommendations on the assessment and treatment of PDA."

So the National Institute for Health and Care Excellence (which provides guidelines on best practice for UK clinicians) makes no mention of PDA in its guidelines for diagnosis of autism either in children or adults.

The causes of developmental disabilities are varied and remain unknown in a large proportion of cases. Even in cases of known etiology the line between "cause" and "effect" is not always clear, leading to difficulty in categorizing causes.

Genetic factors have long been implicated in the causation of developmental disabilities. There is also a large environmental component to these conditions, and the relative contributions of nature versus nurture have been debated for decades.

Current theories on causation focus on genetic factors, and over 1,000 known genetic conditions include developmental disabilities as a symptom.

Developmental disabilities affect between 1 and 2% of the population in most western countries, although many government sources acknowledge that statistics are flawed in this area. The worldwide proportion of people with developmental disabilities is believed to be approximately 1.4%. It is twice as common in males as in females, and some researchers have found that the prevalence of mild developmental disabilities is likely to be higher in areas of poverty and deprivation, and among people of certain ethnicities.

ICD10 diagnosis codes are:

- F95.0 Transient tic disorder

- F95.1 Chronic motor or vocal tic disorder

- F95.2 Combined vocal and multiple motor tic disorder [Gilles de la Tourette]

- F95.8 Other tic disorders

- F95.9 Tic disorder, unspecified

Tics should be distinguished from other causes of tourettism, stereotypies, chorea, dyskinesias, myoclonus, and obsessive-compulsive disorder.

According to the DSM-IV-TR, communication disorders are usually first diagnosed in childhood or adolescence though they are not limited as childhood disorders and may persist into adulthood. They may also occur with other disorders.

Diagnosis involves testing and evaluation during which it is determined if the scores/performance are "substantially below" developmental expectations and if they "significantly" interfere with academic achievement, social interactions and daily living. This assessment may also determine if the characteristic is deviant or delayed. Therefore, it may be possible for an individual to have communication challenges but not meet the criteria of being "substantially below" criteria of the DSM IV-TR.

It should also be noted that the DSM diagnoses do not comprise a complete list of all communication disorders, for example, auditory processing disorder is not classified under the DSM or ICD-10.

The following diagnoses are included in the communication disorders:

- Expressive language disorder – Characterized by difficulty expressing oneself beyond simple sentences and a limited vocabulary. An individual understands language better than their ability to use it; they may have a lot to say but have difficulties organizing and retrieving the words to get an idea across beyond what is expected for their developmental stage.

- Mixed receptive-expressive language disorder – problems comprehending the commands of others.

- Stuttering – a speech disorder characterized by a break in fluency, where sounds, syllables or words may be repeated or prolonged.

- Phonological disorder – a speech sound disorder characterized by problems in making patterns of sound errors, i.e. "dat" for "that".

- Communication disorder NOS (not otherwise specified) – the DSM-IV diagnosis in which disorders that do not meet the specific criteria for the disorder listed above may be classified.

Examples of disorders that may include or create challenges in language and communication and/or may co-occur with the above disorders:

- autism spectrum disorder - autistic disorder (also called "classic" autism), pervasive developmental disorder, and Asperger syndrome – developmental disorders that affect the brain's normal development of social and communication skills.

- expressive language disorder – affects speaking and understanding where there is no delay in non-verbal intelligence.

- mixed receptive-expressive language disorder – affects speaking, understanding, reading and writing where there is no delay in non-verbal intelligence.

- specific language impairment – a language disorder that delays the mastery of language skills in children who have no hearing loss or other developmental delays. SLI is also called developmental language disorder, language delay, or developmental dysphasia.

Ganser syndrome was once considered a separate factitious disorder. It is a disorder of extreme stress or an organic condition. The patient suffers from approximation or giving absurd answers to simple questions. The syndrome is sometimes diagnosed as merely malingering—however, it is more often defined as a factitious disorder. This has been seen in prisoners following solitary confinement, and the symptoms are consistent in different prisons, though the patients do not know one another.

Symptoms include a clouding of consciousness, somatic conversion symptoms, confusion, stress, loss of personal identity, echolalia, and echopraxia. Individuals also give approximate answers to simple questions such as, "How many legs on a cat?" "Three"; "What's the day after Wednesday?" "Friday"; and so on. The disorder is extraordinarily rare with fewer than 100 recorded cases. While individuals of all backgrounds have been reported with the disorder, there is a higher inclination towards males (75% or more). The average age of those with Ganser syndrome is 32, though it stretches from ages 15–62 years old.