ASD

Question 1

Goals of comprehensive assessment

Answer 1

To determine if the child’s symptoms meet established diagnostic criteria for ASD
To determine the child’s level of functioning and neurodevelopmental profile of strengths and weaknesses, which will affect the individualized management plan
To determine whether the child has ASD, another condition
or ASD and an associated condition (eg, associated intellectual or language impairments, medical or genetic conditions, or other neurodevelopmental, mental, or behavioral disorders)

Question 2

Components of comprehensive assessment

Answer 2

History — The history is usually obtained from the parents. Teachers, childcare professionals, and therapists also can provide useful information
Early ASD symptoms

•Review of the developmental history

• > early social-emotional and language milestones, play skills and behaviors, behavior, and loss of skills
• > play behaviors that mimic social events or social situations because these behaviors are usually absent in children with ASD
• > early social and communicative behaviors (eg, pointing, use of eye contact, response to name, shared enjoyment with parents);
• > social communication behaviors that are lacking in children with ASD include taking turns in a play interaction or conversation, failure to regulate the interaction using eye contact, and/or failure to supplement verbal participation through facial expressions, gestures, and changes in prosody.

ASD symptoms in older children (vary with developmental level at presentation):

• > Parental concerns regarding hearing, vision, and speech/language
• > Difficulty having back-and-forth conversation
• > Ability to understand ambiguous nonliteral communication (eg, metaphors, sarcasm, expressions like “it’s raining cats and dogs”)
• > Specific information about current social and communicative behaviors
• > Quality of attachment to family members (Does the child share warm interactions with her or his primary caregivers or turn to them for help and assistance?)
• > Level of interest in socializing with others (Does the child show an interest in socializing with adults or peers? If they do, are the social bids atypical?)
• > Capacity to socialize successfully, using appropriate social attention, social communication behaviors, and ability to understand another’s perspective (Is the child able to respond to the social bids of others? Does the child make social bids to adults or peers? Are these social bids designed only to satisfy wants and needs, or do the social bids also imply an interest in a social interaction? Are the social bids scripted, odd, or unusual?)
• > Development of peer relationships and friendships (Is the child able to identify a friend? Is the child able to make the distinction between who is a friend versus who is an acquaintance or a stranger? Does the child show an interest in socializing with peers? Is the child able to develop peer relations at age-level? Is the child able to maintain friendships?)
• > Ability to infer another person’s feelings, intentions, or beliefs (Does the child make errors in interpreting the intentions and feelings of others? Do these errors occur in real-time social interactions or also when looking at pictures or at story books?)
• > Capacity for self-awareness and perspective-taking
• > Level of insight into social and behavioral problems and the child’s role in relationships

•History of repetitive, ritualized, or stereotyped behaviors (eg, hand flapping) or increased or decreased response to or unusual interest in sensory stimuli:

• > Stereotypy/repetitive behaviors, such as hand-flapping, spinning the self or objects, rocking behaviors
• > Insistence on sameness and routines; inflexible behavior; frequent tantrums and trouble tolerating transitions or changes in routines
• > Patterns of special interest and leisure activities (eg, very specific and often mechanical interests such as trains, subway lines, vacuum cleaners, ceiling fans)
• > Unusual visual behavior or preoccupation with parts of toys

•History of common associated conditions:

• > Significant disturbance in regulation, including eating (including pica), sleep, or toileting
• > Self-injury
• > History of possible seizures
• > Depression (in adolescents and adults)
• > Symptoms of anxiety
• > Learning difficulty
• > Attentional challenges

●Family history – A three-generation family history should be reviewed for ASD and conditions that often are associated with ASD, coexist with ASD, or share symptoms with ASD. ASD has a strong genetic component.

•ASD (including previously used terms, such as pervasive developmental disorder, autism, Asperger syndrome, childhood disintegration syndrome, pervasive developmental disorder not otherwise specified)

• > Intellectual disability (formerly referred to as mental retardation)
• > Language delay
• > Learning and attentional disorders (eg, attention deficit hyperactivity disorder)
• > Seizures
• > Tic disorders
• > Tuberous sclerosis complex, fragile X syndrome, Rett syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Lemli-Opitz syndrome
• > Obsessive-compulsive disorder
• > Anxiety
• > Extreme shyness, social phobia, or selective mutism
• > Mood disorders
• > Schizophrenia

●Psychosocial history – The psychosocial history should include information regarding the family supports and stresses, which may affect management. It also should include a history of exposure to trauma, early deprivation, and attachment disorder, the presentation of which overlaps with ASD

Examination — Extra time should be allotted for the examination because communication deficits and behavioral symptoms may limit cooperation.

Important aspects of the examination include [1]:

●Weight – Restricted, repetitive dietary patterns can result in poor weight gain or obesity.

●Head circumference, including head circumference trajectory if previous measurements are available.

•Children with ASD often have early acceleration of head growth, followed by stabilization. Approximately one-fourth of children with isolated ASD have head circumference greater than the 97th percentile

-Individuals with ASD and macrocephaly may have mutations in the PTEN gene, associated with increased risk of hamartomatous tumor syndromes
•Approximately 15 percent of children with ASD have microcephaly; microcephaly usually occurs in patients with associated conditions (eg, Angelman syndrome, Smith-Lemli-Opitz syndrome) [23].

●Wood lamp examination – May demonstrate the hypopigmented macules of tuberous sclerosis complex (picture 1), an associated condition.

●Examination for dysmorphic features or neurodevelopmental findings of clinical syndromes associated with ASD (table 4).

●Examination of muscle tone and reflexes – Children with ASD can have mild hypotonia
●Focal neurologic findings, such as asymmetry in tone or reflexes, require further neurologic evaluation and possible neuroimaging.

Question 3

DSM criteria

Answer 3

DSM, Fifth edition criteria – According to the DSM, Fifth edition (DSM-5) criteria, a diagnosis of ASD requires all of the following [24]:

•Persistent deficits in social communication and social interaction in multiple settings; demonstrated by deficits in all three of the following (either currently or by history):

• Social-emotional reciprocity (eg, failure to produce mutually enjoyable and agreeable conversations or interactions because of a lack of mutual sharing of interests, lack of awareness or understanding of the thoughts or feelings of others)
• Nonverbal communicative behaviors used for social interaction (eg, difficulty coordinating verbal communication with its nonverbal aspects [eye contact, facial expressions, gestures, body language, and/or prosody/tone of voice])
• Developing, maintaining, and understanding relationships (eg, difficulty adjusting behavior to social setting, lack of ability to show expected social behaviors, lack of interest in socializing, difficulty making friends even when interested in having friendships)

•Restricted, repetitive patterns of behavior, interests, or activities; demonstrated by ≥2 of the following (either currently or by history):

• Stereotyped or repetitive movements, use of objects, or speech (eg, stereotypies such as rocking, flapping, or spinning); echolalia (repeating parts of speech; repeating scripts from movies or prior conversations)
• Insistence on sameness, unwavering adherence to routines, or ritualized patterns of verbal or nonverbal behavior (eg, ordering toys into a line)
• Highly restricted, fixated interests that are abnormal in strength or focus (eg, preoccupation with certain objects [trains, vacuum cleaners, or parts of trains or vacuum cleaners]); perseverative interests (eg, excessive focus on a topic such as dinosaurs or natural disasters)
• Increased or decreased response to sensory input or unusual interest in sensory aspects of the environment (eg, adverse response to particular sounds; apparent indifference to temperature; excessive touching/smelling of objects)
• The symptoms must impair function (eg, social, academic, completing daily routines).
• The symptoms must be present in the early developmental period. However, they may become apparent only after social demands exceed limited capacity; in later life, symptoms may be masked by learned strategies.
• The symptoms are not better explained by intellectual disability (formerly referred to as mental retardation) or global developmental delay.

Question 4

Goals of treatment

Answer 4

Improve social functioning and play skills
Improve communication skills (both functional and spontaneous)
Improve adaptive skills
Decrease nonfunctional or negative behaviors
Promote academic functioning and cognition

Treatment for autism spectrum disorder (ASD) focuses on behavioral and educational interventions that target the core symptoms of ASD (ie, deficits in social communication/interaction and restricted, repetitive patterns of behavior, interests and activities
Pharmacologic interventions may be used to address medical or psychiatric comorbidities or provide symptom control but do not treat the core deficits. In addition, many families seek complementary or alternative therapies

Question 5

Core features of successful autism educational programs include

Answer 5

A high staff-to-student ratio

●Individualized programming for each child

●Teachers with special expertise in working with children with autism

●A minimum of 25 hours per week of services

●Ongoing program evaluation and adjustment

●A curriculum emphasizing attention, imitation, communication, play, social interaction, regulation, and self-advocacy

●A highly supportive teaching environment

●Predictability and structure

●Functional analysis of behavior problems

●Transition planning

●Family involvement

●Close monitoring and modification as the child’s needs change

Question 6

Psychpharmacologic treatments

Answer 6

Psychopharmacologic interventions — Psychotropic medications often are used in children with ASD to treat targeted symptoms including:

●Hyperactivity, inattention, and impulsivity

●Aggression, outbursts, and self-injury

●Anxiety

●Obsessive-compulsive behaviors, rigidity, and repetitive behaviors

●Depressive symptoms

●Sleep dysfunction

Question 7

Surveillance for co-morbid conditins

Answer 7

These include

●Medical disorders (eg, seizures; potential genetic disorders; lead poisoning in children with pica)

●Developmental and mental health comorbidities (eg, hyperactivity, anxiety, depression, behavioral regulation)

●Sleep problems (eg, late onset, frequent waking, restlessness), which may affect daytime function

●Gastrointestinal, feeding, and nutrition problems (eg, constipation, restricted diet)

●Delays in acquisition of self-help skills (eg, toileting, dressing, hygiene)

Question 8

Functional behaviour assessment

Answer 8

identify and characterize each target behavior (with input from parents, other caregivers, and school staff, if possible) in terms of

●How long has it been present? How severe is it?

●What brings it on or makes it worse (eg, time, setting, demands, etc)? Is it amenable to behavioral interventions?

●Are medical factors contributing (eg, dental or other pain, constipation or gastrointestinal distress, infection, sleep, seizures, menstrual cycle, etc)?

●What makes it better? How does it respond to behavioral interventions?

●What is the course? Is it getting better or worse?

●Does it interfere with function?

●What supports are available (eg, behavioral services, educational program, respite care, family support)?

Question 9

Pharmacological options

Answer 9

SUMMARY AND RECOMMENDATIONS

●The target symptom(s) for pharmacotherapy in children with autism spectrum disorder (ASD) should be clearly defined. Medical causes for the behavior should be excluded, and behavioral interventions should be maximized before pharmacotherapy is initiated. (See ‘Pretreatment evaluation’ above.)

●When considering the use of medications for target symptoms, the potential benefits and risks must be weighed on a case-by-case basis. (See ‘Indications’ above.)

●Psychopharmacotherapy for children and adolescents with ASD ideally is prescribed by specialists familiar with ASD (eg, developmental pediatrician, child psychiatrist, child neurologist). Primary care clinicians who undertake the prescription of psychotropic agents for children with ASD should consider consultation with a specialist. (See ‘Who should prescribe?’ above.)

●Children with ASD who are receiving pharmacologic therapy for target symptoms must be monitored regularly for efficacy and side effects. Additional precautions may be necessary for children receiving more than one psychoactive medication. (See ‘Monitoring’ above and ‘Polypharmacy’ above.)

●When, after careful assessment of the patient and a discussion of the potential risks and benefits, the clinician and parents/patient agree that pharmacotherapy is indicated for target symptoms in children with ASD:

• For inattention and hyperactivity that are not thought to be related to other symptoms, such as anxiety, we suggest methylphenidate (Grade 2C). Other stimulants, alpha agonists, and atomoxetine also have been used. (See ‘Approach’ above.)
• For maladaptive behaviors including aggression and self-injury that are not thought to be related to other symptoms, we suggest risperidone or aripiprazole (Grade 2A). Other medications (eg, stimulants, selective serotonin reuptake inhibitors [SSRI], alpha-adrenergic agonists) may be more appropriate, depending upon the underlying cause of aggression (eg, hyperactivity, anxiety, impulsivity). (See ‘Treatment approach’ above.)
• For isolated repetitive behaviors, evidence is lacking to recommend a specific SSRI; however, we suggest fluoxetine, sertraline, or another SSRI as the initial medication for interfering repetitive behavior (Grade 2C), especially if the behaviors are exacerbated by anxiety. (See ‘Repetitive behaviors and rigidity’ above.)
• For anxiety, we suggest an SSRI as the initial medication (Grade 2B). (See ‘Anxiety’ above.)
• For dysregulated mood, we suggest an atypical antipsychotic or SSRI as the initial medication (Grade 2C). (See ‘Mood lability’ above.)
• For depressive symptoms, we suggest an SSRI or serotonin norepinephrine reuptake inhibitor as the initial medication (Grade 2B). (See ‘Depression’ above.)

●Pharmacologic management of seizures in children with ASD is similar to that of seizures in children without ASD. (See “Seizures and epilepsy in children: Initial treatment and monitoring”.)

●Gastrointestinal disorders in children with ASD generally should be managed in the same way as in children without ASD. (See ‘Gastrointestinal problems’ above.)

●Melatonin may be beneficial for sleep disturbance (late onset, frequent waking, restlessness) that persists despite appropriate sleep hygiene and behavioral interventions. (See ‘Melatonin’ above.)

Question 10

Behaviour management plan template

Answer 10

The behaviour management plan template should be positive and objective. It includes:

Name of Child
Age
Date
Educator
Child Background
Behavioural Indicators
Antecedent Events 
Prioritize Behaviour
Intervention
Strategies
Support
Aims
Monitoring Behaviour
Dates Records Were Taken
Signature of Lead Educator, Director and Parent
Evaluation

Question 11

Range of behaviours commonly linked with ASD

Answer 11

These may include:
 language – absent, delayed or abnormal developmental patterns
 play – isolated, repetitive, a preference for predictable play, difficulty with imaginative play; stereotypical behaviour, such as flapping and toe walking, and other behaviours that may cause self-injury.
 restricted or obsessive behaviour – with favourite topics, objects, places, people or activities
 rituals and routines – these bring some order to chaos and confusion. A change to routine can result in the person displaying high levels of stress, anxiety or acting out
 tantrums ‘meltdowns’ – can be a way to express extreme confusion, stress, anxiety, anger and frustration.
 sensory processing differences – difficulties processing certain sounds, colours, tastes, smells and textures. People may seek or avoid particular sensations. Some people will have difficulty with discriminating sensory information too, for example hot versus cold.

Question 12

Causes of ASD

Answer 12

To date, there is no accepted single cause of Autism although there are numerous theories. It is becoming apparent that,

1) ASD is most probably caused by multiple factors interacting in complex ways (i.e. multiple genes, environment and brain) and,
2) that ASD is not etiologically homogeneous. That is, there are probably numerous sub-types of ASD each with differing aetiologies. -> evidence of a sub-group of children diagnosed with ASD (20-30%) who show skill regression between 18 - 24 months after apparently normal initial development (Lainhart et al, 2002) while other children with ASD show consistently delayed development.

Genetics have been shown to play a role but do not explain the full picture or the recent increase in reported cases-> if one identical twin has the diagnosis, then there is a 30-40% chance that the other twin will develop ASD. This concordance is hardly ever seen with non-identical twins. (Bailey et al, 1995).

The probability of receiving an ASD diagnosis when another sibling has already been diagnosed is estimated between 2 and 14%, a 10- to 20 -fold increase over the general population incidence (see Hertz-Picciotto et al, 2006.

Research into genetics suggests that at least 40% of ASD cases may have an environmental cause (Hertz-Picciotto et al, 2006).

maternal exposure to certain viruses (measles, mumps, rubella, herpes, syphilis, cytomegalovirus and toxoplasmosis) and chemicals (thalidomide and valproic acid). However, these account for a very small proportion of all cases (Hertz-Picciotto et al, 2006).

environmental causes (e.g. heavy metals, PCBs pesticides and PDBEs) as a central hypothesis. Large-scale studies have been set up to begin to understand the contribution of environmental factors to the aetiology of ASD, for instance the CHARGE (Childhood Autism Risk from Genetics and Environment) study at University California-Davis.

atypical brain development underlies the development of the observable symptoms of ASD-> either before birth or very soon after birth even though the behavioural and social signs of Autism tend not be observable until after 18 months following birth.

differential development ->the frontal and temporal lobes, the cerebellum, and the sub-cortical amygdala and hippocampus.

Scarcity of evidence, methodological challenges and conflicting findings have not yet allowed precise conclusions to be drawn about either the specific brain regions affected or the mechanism of development that lead to observed brain differences.

Question 13

Associated health conditions

Answer 13

 muscular dystrophy – a group of inherited genetic conditions that gradually cause muscles weakness.
 Down’s syndrome – a genetic condition typically causing learning disability and a range of physical features.
 cerebral palsy – brain and nervous system conditions causing problems with movement and co-ordination.
 neurofibromatosis – a number of genetic conditions causing tumours to grow along the nerves (the main types are neurofibromatosis type 1 and neurofibromatosis type 2).
 rare genetic conditions fragile X syndrome, tuberous sclerosis and Rett syndrome.
 foetal alcohol syndrome.
 intellectual impairment.
 attachment disorder

Question 14

Misconceptions about the causes of ASD

Answer 14

In the past, a number of things were linked to ASD, but extensive research has found no evidence to suggest that any of these contribute to the condition, including:
 the MMR vaccine.
 thiomersal – a compound that contains mercury, which is used as a preservative in some vaccines.
 the way a person has been brought up.
 diet, such as eating gluten or dairy products.
Any link between immunisation and ASD has been completely discredited. The key study that questioned this was the Wakefield Study in 1998.
Extensive research conducted globally for a decade did not establish any link between vaccines and ASD. Despite this finding, as a precaution, thiomersal in particular has been withdrawn from the standard childhood vaccines in Australia and many other countries.

Question 15

Diagnosis of ASD in adults

Answer 15

It is not unusual for people on the autism spectrum to have reached adulthood without a diagnosis. Sometimes people will discover some information about ASD that makes them consider if that diagnosis fits their difficulties or symptoms. Some may then choose to talk to a health professional for a diagnosis if:
 they have been diagnosed with a mental health condition and/or intellectual disability during childhood
 they have struggled with feeling socially isolated, had lifelong social challenges or felt different from their peers throughout life.
 they have not benefitted from a range of interventions to assist with social challenges and wonder if these are lifelong problems.
 members of their family have suggested they may have ASD.
 a child or another family member has been diagnosed with ASD and some of the characteristics of autism sound familiar.

Question 16

Summary of treatments

Answer 16

1. Biologically Based Interventions Medication-> nil for core features. some effect, although careful monitoring is required to measure effects and side effects: risperidone, SSRIs, stimulants, anticonvulsants.
2. Complementary and alternative interventions
   These include exclusion diets (casein and gluten-free diet), anti-yeast therapies, chelation, secretin, withholding the MMR vaccine and vitamin/dietary supplements including vitamin B6. There is minimal /nil evidence.
3. Psychodynamic Interventions
   Psychodynamic therapies are based on the assumption that autism is the result of emotional damage to the child, are seldom used today, as there is strong evidence to support the perspective that autism is a developmental and cognitive disorder
4. 4. Educational Interventions
      Autism Intervention Programs and specific schools offer:
      - smaller class sizes to improve teacher and student relationships
      - the availability of school support officers to assist children to manage anxiety in class and in particular in group situations
      - the use of alternate communication pathways such as PECS (picture exchange communication systems); Makaton; Auslan and text to speech software
5. Behavioural Interventions->Applied behaviour analysis (ABA) is an approach in which operant learning techniques are applied in a systematic and measurable manner to increase, reduce, maintain, and/or generalise target behaviours.
   Discrete Trial Training (DTT) is one of the instructional methodologies frequently used in ABA-based programs, and involves breaking down specific skills into small discrete components.
6. Developmental (normalised) Interventions
   focus on the child’s ability to form positive, meaningful relationships with other people. Generally, the aims of these programs are to promote attention, relating to and interacting with others, experience of a range of feelings, and organised logical thought. To date, there is little research evidence to support the effectiveness of developmental interventions for children with autism.
   Further research is required to determine the effectiveness of these interventions. The Developmental Social-Pragmatic Model emphasises the importance of initiation and spontaneity in communication, following the child’s focus of attention and motivations, building on the child’s current communicative repertoire, even if this is unconventional, 10 and using natural activities and events as contexts to support the development of the child’s communicative abilities.
7. Floor Time (DIR)
   Floor Time, or the Developmental Individual-Difference Relationship-Based Model (DIR), is a developmental approach for early intervention with infants and children with a disability, including autism. The program includes interactive experiences, which are child directed, in a low stimulus environment. Proponents contend that interactive play, in which the adult follows the child’s lead, will encourage the child to ‘want’ to relate to the outside world.
8. Relationship Development Intervention (RDI)
   RDI is a series of techniques and strategies built upon the typical developmental processes of social competence. The goal of RDI is to increase motivation and interest in social relating in individuals with autism and provide activities and coaching to assist them to enjoy and become competent in social relationships.
9. Responsive Teaching (RT)
   Responsive Teaching (RT) is a parent-mediated program, grounded in contemporary child development theory, which aims to help parents to interact more responsively with their children Relationship Development Intervention (RDI).

Question 17

Therapy based interventions

Answer 17

1. Communication focused interventions
2. Visual strategies and visually cued instruction
3. Manual signing
4. The picture exchange communication system
5. Social stories
6. Speech generating devices
7. Auditory integration training
8. Sensory integration therapy

Question 18

The SCERTS model

Answer 18

The SCERTS model focuses on Social Communication, Emotional Regulation, and Transactional Support as the principal dimensions for intervention planning. The goal of the program is to directly address the core deficits observed in children with autism, based on a highly individualised approach.

Question 19

Family based interventions

Answer 19

A number of programs have been developed to provide support to the families of children with autism. Support may include helping parents to understand the nature of autism and their child’s learning style, providing parents with teaching and strategies to help support their child’s learning, helping family members to establish their own support networks, and providing information about other services and support programs that are available. In family support programs, therapists and professionals work with the parents, siblings, and significant others, rather than directly with the child with autism

Question 20

Family-Centred Positive Behaviour Support (PBS)

Answer 20

Programs Family-centred PBS programs involve parents and professionals working together, in a systematic and collaborative fashion, to address a child’s challenging behaviour. Family centred PBS plans include

(a) strategies for teaching and increasing skills that are intended to replace the problem behaviours,
(b) strategies for preventing the problems before they occur,
(c) strategies for dealing with the problems if or when they do occur, and
(d) strategies for monitoring progress.

Question 21

The Hanen Program (More than Words)

Answer 21

‘More than Words’ is an intensive training program for parents of pre-school children with autism. The program derives its theoretical framework from a social-pragmatic developmental perspective and emphasises the blending of aspects of both behavioural and naturalistic child-centred programs; the breaking down of activities into structured, small steps found in an ABA program, and the provision of opportunities to use language for functional purposes built into more naturalistic approaches. A preliminary evaluation of treatment outcomes has indicated that the program has some positive outcomes for children and families. Further research is required in order to evaluate this program more comprehensively