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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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About half of parents of children with ASD notice their child's unusual behaviors by age 18 months, and about four-fifths notice by age 24 months. According to an article, failure to meet any of the following milestones "is an absolute indication to proceed with further evaluations. Delay in referral for such testing may delay early diagnosis and treatment and affect the long-term outcome".
- No babbling by 12 months.
- No gesturing (pointing, waving, etc.) by 12 months.
- No single words by 16 months.
- No two-word (spontaneous, not just echolalic) phrases by 24 months.
- Any loss of any language or social skills, at any age.
The United States Preventive Services Task Force in 2016 found it was unclear if screening was beneficial or harmful among children in whom there is no concerns. The Japanese practice is to screen all children for ASD at 18 and 24 months, using autism-specific formal screening tests. In contrast, in the UK, children whose families or doctors recognize possible signs of autism are screened. It is not known which approach is more effective. Screening tools include the Modified Checklist for Autism in Toddlers (M-CHAT), the Early Screening of Autistic Traits Questionnaire, and the First Year Inventory; initial data on M-CHAT and its predecessor, the Checklist for Autism in Toddlers (CHAT), on children aged 18–30 months suggests that it is best used in a clinical setting and that it has low sensitivity (many false-negatives) but good specificity (few false-positives). It may be more accurate to precede these tests with a broadband screener that does not distinguish ASD from other developmental disorders. Screening tools designed for one culture's norms for behaviors like eye contact may be inappropriate for a different culture. Although genetic screening for autism is generally still impractical, it can be considered in some cases, such as children with neurological symptoms and dysmorphic features.
There are several measures that can be employed to assess the executive functioning capabilities of an individual. Although a trained non-professional working outside of an institutionalized setting can legally and competently perform many of these measures, a trained professional administering the test in a standardized setting will yield the most accurate results.
About 25-40% of youths diagnosed with conduct disorder qualify for a diagnosis of antisocial personality disorder when they reach adulthood. For those that do not develop ASPD, most still exhibit social dysfunction in adult life.
While infection with rubella during pregnancy causes fewer than 1% of cases of autism, vaccination against rubella can prevent many of those cases.
There is a division among doctors on the use of the term PDD. Many use the term PDD as a short way of saying PDD-NOS. Others use the general category because the term PDD actually refers to a category of disorders and is not a diagnostic label.
PDD is not itself a diagnosis, while PDD-NOS is a diagnosis. To further complicate the issue, PDD-NOS can also be referred to as "atypical personality development", "atypical PDD", or "atypical Autism".
Because of the "NOS", which means "not otherwise specified", it is hard to describe what PDD-NOS is, other than its being an autism spectrum disorder (ASD). Some people diagnosed with PDD-NOS are close to having Asperger syndrome, but do not quite fit. Others have near full-fledged autism, but without some of its symptoms. The psychology field is considering creating several subclasses within PDD-NOS.
Conduct disorder is classified in the fourth edition of "Diagnostic and Statistical Manual of Mental Disorders" (DSM). It is diagnosed based on a prolonged pattern of antisocial behaviour such as serious violation of laws and social norms and rules in people younger than the age of 18. Similar criteria are used in those over the age of 18 for the diagnosis of antisocial personality disorder. No proposed revisions for the main criteria of conduct disorder exist in the "DSM-5"; there is a recommendation by the work group to add an additional specifier for callous and unemotional traits. According to DSM-5 criteria for conduct disorder, there are four categories that could be present in the child's behavior: aggression to people and animals, destruction of property, deceitfulness or theft, and serious violation of rules.
Almost all adolescents who have a substance use disorder have conduct disorder-like traits, but after successful treatment of the substance use disorder, about half of these adolescents no longer display conduct disorder-like symptoms. Therefore, it is important to exclude a substance-induced cause and instead address the substance use disorder prior to making a psychiatric diagnosis of conduct disorder.
The pervasive developmental disorders are:
- Pervasive developmental disorder not otherwise specified (PDD-NOS), which includes atypical autism, and is the most common (47% of diagnoses);
- Autism, the best-known;
- Asperger syndrome (9% of autism diagnoses);
- Rett syndrome; and
- Childhood disintegrative disorder (CDD).
The first three of these disorders are commonly called the autism spectrum disorders; the last two disorders are much rarer, and are sometimes placed in the autism spectrum and sometimes not.
In May 2013, the "Diagnostic and Statistical Manual-Fifth Edition" ("DSM-5") was released, updating the classification for pervasive developmental disorders. The grouping of disorders, including PDD-NOS, Autism, Asperger Syndrome, Rett Syndrome, and CDD, has been removed and replaced with the general term of Autism Spectrum Disorders. The American Psychiatric Association has concluded that using the general diagnosis of ASD supports more accurate diagnoses. The combination of these disorders was also fueled by the standpoint that Autism is characterized by common symptoms and should therefore bear a single diagnostic term. In order to distinguish between the different disorders, the DSM-5 employs severity levels. The severity levels take into account required support, restricted interests and repetitive behaviors, and deficits in social communication.
ASD can be detected as early as 18 months or even younger in some cases. A reliable diagnosis can usually be made by the age of two years. The diverse expressions of ASD symptoms pose diagnostic challenges to clinicians. Individuals with an ASD may present at various times of development (e.g., toddler, child, or adolescent), and symptom expression may vary over the course of development. Furthermore, clinicians must differentiate among pervasive developmental disorders, and may also consider similar conditions, including intellectual disability not associated with a pervasive developmental disorder, specific language disorders, ADHD, anxiety, and psychotic disorders.
Considering the unique challenges in diagnosing ASD, specific practice parameters for its assessment have been published by the American Academy of Neurology, the American Academy of Child and Adolescent Psychiatry, and a consensus panel with representation from various professional societies. The practice parameters outlined by these societies include an initial screening of children by general practitioners (i.e., "Level 1 screening") and for children who fail the initial screening, a comprehensive diagnostic assessment by experienced clinicians (i.e. "Level 2 evaluation"). Furthermore, it has been suggested that assessments of children with suspected ASD be evaluated within a developmental framework, include multiple informants (e.g., parents and teachers) from diverse contexts (e.g., home and school), and employ a multidisciplinary team of professionals (e.g., clinical psychologists, neuropsychologists, and psychiatrists).
After a child shows initial evidence of ASD tendencies, psychologists administer various psychological assessment tools to assess for ASD. Among these measurements, the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) are considered the "gold standards" for assessing autistic children. The ADI-R is a semi-structured parent interview that probes for symptoms of autism by evaluating a child's current behavior and developmental history. The ADOS is a semistructured interactive evaluation of ASD symptoms that is used to measure social and communication abilities by eliciting several opportunities (or "presses") for spontaneous behaviors (e.g., eye contact) in standardized context. Various other questionnaires (e.g., The Childhood Autism Rating Scale, Autism Treatment Evaluation Checklist) and tests of cognitive functioning (e.g., The Peabody Picture Vocabulary Test) are typically included in an ASD assessment battery.
In the UK, there is some diagnostic use of the Diagnostic Interview for Social and Communication Disorders (DISCO) was which was developed for use at The Centre for Social and Communication Disorders, by Lorna Wing and Judith Gould, as both a clinical and a research instrument for use with children and adults of any age. The DISCO is designed to elicit a picture of the whole person through the story of their development and behaviour. In clinical work, the primary purpose is to facilitate understanding of the pattern over time of the specific skills and impairments that underlie the overt behaviour. If no information is available, the clinician has to obtain as much information as possible concerning the details of current skills and pattern of behaviour of the person. This type of dimensional approach to clinical description is useful for prescribing treatment.
Parents of children with Asperger syndrome can typically trace differences in their children's development to as early as 30 months of age. Developmental screening during a routine check-up by a general practitioner or pediatrician may identify signs that warrant further investigation. The United States Preventive Services Task Force in 2016 found it was unclear if screening was beneficial or harmful among children in whom there are no concerns.
The diagnosis of AS is complicated by the use of several different screening instruments, including the Asperger Syndrome Diagnostic Scale (ASDS), Autism Spectrum Screening Questionnaire (ASSQ), Childhood Autism Spectrum Test (CAST) (previously called the Childhood Asperger Syndrome Test), Gilliam Asperger's disorder scale (GADS), Krug Asperger's Disorder Index (KADI), and the Autism-spectrum quotient (AQ; with versions for children, adolescents and adults). None have been shown to reliably differentiate between AS and other ASDs.
The Clock drawing test (CDT) is a brief cognitive task that can be used by physicians who suspect neurological dysfunction based on history and physical examination. It is relatively easy to train non-professional staff to administer a CDT. Therefore, this is a test that can easily be administered in educational and geriatric settings and can be utilized as a precursory measure to indicate the likelihood of further/future deficits. Also, generational, educational and cultural differences are not perceived as impacting the utility of the CDT.
The procedure of the CDT begins with the instruction to the participant to draw a clock reading a specific time (generally 11:10). After the task is complete, the test administrator draws a clock with the hands set at the same specific time. Then the patient is asked to copy the image. Errors in clock drawing are classified according to the following categories: omissions, perseverations, rotations, misplacements, distortions, substitutions and additions. Memory, concentration, initiation, energy, mental clarity and indecision are all measures that are scored during this activity. Those with deficits in executive functioning will often make errors on the first clock but not the second. In other words, they will be unable to generate their own example, but will show proficiency in the copying task.
Separation anxiety disorder
- Cognitive behavioral therapy is often used to treat separation anxiety disorder. Family therapy may also be helpful to get to the core of the issue. Systemic desensitization techniques are usually used to help the child get used to being comfortable away from home.
Selective mutism
- It is important not to "enable" the child with selective mutism by allowing them to remain silent in the social settings that they are uncomfortable in. Both parents and teachers need to be involved in the treatment of selective mutism. The most important factor to remember is that the child does not have a speech disorder; it is an anxiety disorder.
Reactive attachment disorder of infancy or early childhood
- Treatment almost always involves the child and his or her parents or caregivers. Parents may need to take parenting skills classes and attend family therapy with the child. Individual therapy with the child and therapist is effective. Another technique is keeping close physical contact between the child and his or her parents.
Stereotypic movement disorder
- Behavioral techniques and psychotherapy are the most effective treatment for children with this disorder. It is important to change the child's environment so that they are unable to harm themselves. Medication is also effective.
Multiple complex developmental disorder (MCDD) is a research category, proposed to involve several neurological and psychological symptoms where at least some symptoms are first noticed during early childhood and persist throughout life. It was originally suggested to be a subtype of autistic spectrum disorders (PDD) with co-morbid schizophrenia or another psychotic disorder; however, there is some controversy that not everyone with MCDD meets criteria for both PDD and psychosis. The term "multiplex developmental disorder" was coined by Donald J. Cohen in 1986.
Traditionally, genetic abnormalities in neurodevelopmental disorders were detected using karyotype analysis, which found 5% of relevant disorders. , chromosomal microarray analysis (CMA) has replaced karyotyping, because of its greater diagnostic yield in about 20% of cases, detecting smaller chromosome abnormalities. It is the first line genomic test.
New descriptions include the term Copy-number variants (CNVs), which are losses or gains of chromosomal regions greater than 1 kb in length. CNVs are mentioned with the chromosomal band(s) they involve and their genome sequence coordinates. CNVs can be nonrecurrent and recurrent.
With CMA costs of testing have increased from 800 US$ to 1500$. Guidelines from the American College of Medical Genetics and Genomics and the American Academy of Pediatrics recommend CMA as standard of care in the US.
Standard diagnostic criteria require impairment in social interaction and repetitive and stereotyped patterns of behavior, activities and interests, without significant delay in language or cognitive development. Unlike the international standard, the DSM-IV-TR criteria also required significant impairment in day-to-day functioning; DSM-5 eliminated AS as a separate diagnosis in 2013, and folded it into the umbrella of autism spectrum disorders. Other sets of diagnostic criteria have been proposed by Szatmari "et al." and by Gillberg and Gillberg.
Diagnosis is most commonly made between the ages of four and eleven. A comprehensive assessment involves a multidisciplinary team that observes across multiple settings, and includes neurological and genetic assessment as well as tests for cognition, psychomotor function, verbal and nonverbal strengths and weaknesses, style of learning, and skills for independent living. The "gold standard" in diagnosing ASDs combines clinical judgment with the Autism Diagnostic Interview-Revised (ADI-R)—a semistructured parent interview—and the Autism Diagnostic Observation Schedule (ADOS)—a conversation and play-based interview with the child. Delayed or mistaken diagnosis can be traumatic for individuals and families; for example, misdiagnosis can lead to medications that worsen behavior.
Underdiagnosis and overdiagnosis may be problems. The cost and difficulty of screening and assessment can delay diagnosis. Conversely, the increasing popularity of drug treatment options and the expansion of benefits has motivated providers to overdiagnose ASD. There are indications AS has been diagnosed more frequently in recent years, partly as a residual diagnosis for children of normal intelligence who are not autistic but have social difficulties.
There are questions about the external validity of the AS diagnosis. That is, it is unclear whether there is a practical benefit in distinguishing AS from HFA and from PDD-NOS; the same child can receive different diagnoses depending on the screening tool. The debate about distinguishing AS from HFA is partly due to a tautological dilemma where disorders are defined based on severity of impairment, so that studies that appear to confirm differences based on severity are to be expected.
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 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.
Mental retardation is coded on Axis II of the DSM-IV-TR. The diagnostic criteria necessary in order to diagnose intellectual disability consists of:
There are varying degrees of intellectual disability, which are identified by an IQ test.
Mental retardation, Severity Unspecified: This unspecified diagnosis is given when there is a strong assumption that the child is mentally retarded, but cannot be tested because the individual is too impaired, not willing to take the IQ test or is an infant.
Sensory processing disorder since 1994 is accepted in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-3R) and is not recognized as a mental disorder in medical manuals such as the ICD-10 or the DSM-5.
Diagnosis is primarily arrived at by the use of standardized tests, standardized questionnaires, expert observational scales, and free play observation at an occupational therapy gym. Observation of functional activities might be carried at school and home as well. Some scales that are not exclusively used in SPD evaluations are used to measure visual perception, function, neurology and motor skills.
Depending on the country, diagnosis is made by different professionals, such as occupational therapists, psychologists, learning specialists, physiotherapists and/or speech and language therapists. In some countries it is recommended to have a full psychological and neurological evaluation if symptoms are too severe.
The utility of PTSD derived psychotherapies for assisting children with C-PTSD is uncertain. This area of diagnosis and treatment calls for caution in use of the category C-PTSD. Ford and van der Kolk have suggested that C-PTSD may not be as useful a category for diagnosis and treatment of children as a proposed category of developmental trauma disorder (DTD). For DTD to be diagnosed it requires a
'history of exposure to early life developmentally adverse interpersonal trauma such as sexual abuse, physical abuse, violence, traumatic losses of other significant disruption or betrayal of the child's relationships with primary caregivers, which has been postulated as an etiological basis for complex traumatic stress disorders. Diagnosis, treatment planning and outcome are always relational.'
Since C-PTSD or DTD in children is often caused by chronic maltreatment, neglect or abuse in a care-giving relationship the first element of the biopsychosocial system to address is that relationship. This invariably involves some sort of child protection agency. This both widens the range of support that can be given to the child but also the complexity of the situation, since the agency's statutory legal obligations may then need to be enforced.
A number of practical, therapeutic and ethical principles for assessment and intervention have been developed and explored in the field:
- Identifying and addressing threats to the child's or family's safety and stability are the first priority.
- A relational bridge must be developed to engage, retain and maximize the benefit for the child and caregiver.
- Diagnosis, treatment planning and outcome monitoring are always relational (and) strengths based.
- All phases of treatment should aim to enhance self-regulation competencies.
- Determining with whom, when and how to address traumatic memories.
- Preventing and managing relational discontinuities and psychosocial crises.
Neurodevelopmental disorders are in their multitude associated with widely varying degrees of difficulty, depending on which there are different degrees of mental, emotional, physical, and economic consequences for individuals, and in turn families, groups and society.
Assessments for developmental coordination disorder typically require a developmental history, detailing ages at which significant developmental milestones, such as crawling and walking, occurred. Motor skills screening includes activities designed to indicate developmental coordination disorder, including balancing, physical sequencing, touch sensitivity, and variations on walking activities.
The American Psychiatric Association has four primary inclusive diagnostic criteria for determining if a child has developmental coordination disorder.
The criteria are as follows:
1. Motor Coordination will be greatly reduced, although the intelligence of the child is normal for the age.
2. The difficulties the child experiences with motor coordination or planning interfere with the child's daily life.
3. The difficulties with coordination are not due to any other medical condition
4. If the child does also experience comorbidities such as mental retardation; motor coordination is still disproportionally affected.
Screening tests which can be used to assess developmental coordination disorder include:-
- Movement Assessment Battery for Children (Movement-ABC – Movement-ABC 2)
- Peabody Developmental Motor Scales- Second Edition (PDMS-2)
- Bruininks-Oseretsky Test of Motor Proficiency (BOTMP-BOT-2)
- Motoriktest für vier- bis sechsjährige Kinder (MOT 4-6)
- Körperkoordinationtest für Kinder (KTK)
- Test of Gross Motor Development, Second Edition (TGMD-2)
- Maastrichtse Motoriek Test (MMT)
- Wechsler Adult Intelligence Scale (WAIS-IV)
- Wechsler Individual Achievement Test (WAIT-II)
- Test of Word Reading Efficiency (TOWRE-2)
- Developmental Coordination Disorder Questionnaire (DCD-Q)
- Children's Self-Perceptions of Adequacy in, and Predilection for Physical Activity (CSAPPA)
Currently there is no single gold standard assessment test.
A baseline motor assessment establishes the starting point for developmental intervention programs. Comparing children to normal rates of development may help to establish areas of significant difficulty.
However, research in the "British Journal of Special Education" has shown that knowledge is severely limited in many who should be trained to recognise and respond to various difficulties, including developmental coordination disorder, dyslexia and deficits in attention, motor control and perception (DAMP). The earlier that difficulties are noted and timely assessments occur, the quicker intervention can begin. A teacher or GP could miss a diagnosis if they are only applying a cursory knowledge.
"Teachers will not be able to recognise or accommodate the child with learning difficulties in class if their knowledge is limited. Similarly GPs will find it difficult to detect and appropriately refer children with learning difficulties."
It is estimated that up to 16.5% of elementary school aged children present elevated SOR behaviors in the tactile or auditory modalities. However, this figure might represent an underestimation of Sensory Over Responsivity prevalence, since this study did not include children with developmental disorders or those delivered preterm, who are more likely to present it.
This figure is, nonetheless, larger than what previous studies with smaller samples had shown: an estimate of 5–13% of elementary school aged children.
Incidence for the remaining subtypes is currently unknown.
Developmental coordination disorder is a lifelong neurological condition that is more common in males than in females, with a ratio of approximately four males to every female. The exact proportion of people with the disorder is unknown since the disorder can be difficult to detect due to a lack of specific laboratory tests, thus making diagnosis of the condition one of elimination of all other possible causes/diseases. Approximately 5–6% of children are affected by this condition.
Developmental Verbal Dyspraxia can be diagnosed by a speech language pathologist (SLP) through specific exams that measure oral mechanisms of speech. The oral mechanisms exam involves tasks such as pursing lips, blowing, licking lips, elevating the tongue, and also involves an examination of the mouth. A complete exam also involves observation of the patient eating and talking. Tests such as the Kaufman Speech Praxis test, a more formal examination, are also used in diagnosis.
A differential diagnosis of DVD/CAS is often not possible for children under the age of 2 years old. Even when children are between 2–3 years, a clear diagnosis cannot always occur, because at this age, they may still be unable to focus on, or cooperate with, diagnostic testing.
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 .