​Kembara Xtra - Medicine - Autism Spectrum Disorder

​Kembara Xtra - Medicine - Autism Spectrum Disorder 
ESSENTIAL DESCRIPTION

 Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition: Group of neurodevelopmental disorders of early infancy characterized by (i) chronic deficiencies in social communication and interaction and (ii) constrained, repetitive patterns of behavior, interests, or activities Autism spectrum disorder (ASD) is an umbrella term that refers to a range of pervasive developmental disorders with labels for differing degrees of severity and related symptoms.
ASD combines a number of previous diagnoses, many of which are still used by ICD-10 coding, such as autistic disorder, childhood disintegrative disorder, Asperger disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), early infantile autism, childhood autism, Kanner autism, high-functioning autism, and atypical autism.
● Even though symptoms must appear throughout the early stages of growth, they may not become obvious until societal demands surpass capability.
Symptoms must hinder functional ability. Levels of severity: Level 1: Support is necessary; Level 2: Substantial Support is Required; Level 3: Very Substantial Support is Required
Catatonia, intellectual disability, linguistic impairment, known medical or genetic illness, and neurodevelopmental, mental, or behavioral disorders are specific descriptors for linked symptoms.
It's crucial to differentiate ASD symptoms from those that could be explained by intellectual disability or a general developmental delay.


EPIDEMIOLOGY
Early childhood onset; male > female (4:1); predominance of age; and predominance of sex
Child Safety Considerations
The onset of symptoms can frequently be observed in children under the age of 3, but they could not be noticeable until social demands surpass capability.
Incidence
In the United States, an estimated 1 in every 110 children receives a diagnosis each year.

ASD was projected to be present in 1 in every 54 children between the ages of 3 and 17 in 2016, according to the Centers for Disease Control and Prevention (CDC).
There was no difference between the prevalence of non-Hispanic white children diagnosed with ASD compared to non-Hispanic black children in 2016. This has been a steady increase since 2000 when the CDC reported the prevalence to be 1 in 150. However, there are fewer Hispanics who have been given an ASD diagnosis.

PATHOPHYSIOLOGY AND ETIOLOGY
There is no single cause that has been found.
The general consensus is that altered neurologic development results from a genetic anomaly.
Epidemiologic data refute any link between vaccinations and autism spectrum disorder (ASD).

Genetics Genetic concordance: A population-based cohort research conducted in Sweden in 2009 with 2 million participants revealed a cumulative risk of 59% for monozygotic twins.
● The chance of siblings of children with ASD without an identifiable cause is listed as being: - 7% if the affected kid is female; - 4% if the affected child is male; - >30% if there are two or more afflicted children by the condition.

Male sex, advanced paternal age, family history, and very low birth weight are risk factors. Perinatal insults include toxic exposures, teratogens, prenatal infections, and the use of valproate or an SSRI during pregnancy.

GENERAL  PREVENTION

 Early intervention screening is linked to better prognosis, although in the US, the median age of diagnosis is >4 years.
To aid with early detection, routine ASD screening using a validated test is advised at 18- and 24-month well-child visits.
Less severe presentations may pass earlier routine screening, so screening is recommended after 24 months if parents or a clinician have concerns about ASD. Children who test falsely positive for ASD frequently have some form of developmental disorder that benefits from early intervention. Screening can be challenging due to the variability of ASD signs and symptoms as well as the lack of agreement on social developmental milestones, which results in delayed diagnosis.

CONDITIONS OFTEN Associated with

Attention deficit hyperactivity disorder (ADHD), anxiety, sadness, or obsessive behavior are among conditions that can cause intellectual incapacity (seizures in severe situations).
Phenylketonuria (PKU), tuberous sclerosis, fragile X syndrome, Angelman syndrome, Rett syndrome, CHARGE syndrome, Joubert syndrome, Smith-Lemli-Opitz syndrome, Timothy syndrome, and fetal alcohol syndrome (rare) are all conditions that cause motor impairments such as hypotonia, apraxia, toe walking, or gross motor delays.
Changes in bowel habits and pain in the abdomen are symptoms of sleep problems such as insomnia, circadian rhythm sleep-wake disorder, and sleep-related movement disorder.


DISEASE HISTORY

Consider early testing if there is a possibility of a neurodevelopmental issue and pay attention to parents' worries.
Deficits in nonverbal communication: abnormal eye contact or body language; deficits in understanding and using gestures; lack of facial expression and nonverbal communication; failure of typical back-and-forth conversations; reduced sharing of interests, emotions, or affect; failure to initiate or respond to social interaction
- Problems changing behavior to fit different social circumstances
- Difficulties making friends or engaging in imaginative play - Lack of interest in and development of peer connections

 Repeated and cliched behavioral habits
- Stereotypical or repetitive motor movements, object use, or speech - Insistence on sameness, rigid adherence to routines, or ritualized behavioral patterns with intolerance to change - Extremely constrained, abnormally intense, or fixated interests - Hyper- or hyporeactivity to sensory input, or unusual interest in sensory aspects of the environment - Prenatal, neonatal, and developmental history; seizure disorder - Family history of autism, genet

PHYSICAL EXAMINATION Measurement of growth parameters, such as height, weight, and head circumference, to rule out skin manifestations of neurocutaneous disorders because macrocephaly affects 25% of people with ASD; assessments of vision, hearing, speech/language, and communication; developmental and sensorimotor testing; a full neurologic examination; and an examination for dysmorphic features consistent with genetic disorders.

DISTINCTIVE DIAGNOSIS

 Behavioral disorders such as reactive attachment, anxiety, and obsessive-compulsive
Developmental disorders include acquired epileptic aphasia, fetal alcohol syndrome, Rett syndrome, language disorder, hearing impairment, and social communication disorder. Other conditions include tic disorder, fragile X syndrome, and acquired epileptic mutism.

DETECTION & INTERPRETATION OF DIAGNOSIS

The Modified Checklist for Autism in Toddlers (M-CHAT) is a frequently used test to identify ASDs in children between the ages of 12 and 30 months. For children less than 12 months, more details are required (https:// mchatscreen.com).
The Modified Checklist for Toddler Autism Children aged 16 to 30 months, especially those with cultural obstacles, demonstrate improved PPV and a decreased false-positive rate when tested using the Revised with Follow-up (M-CHAT-R/F) method (https:// mchatscreen.com/ mchat-rf/).
The Infant-Toddler Checklist (parent questionnaire) is beneficial in detecting infant siblings of children with ASD who are at higher risk for ASD. It can detect language delay in low-risk patients between the ages of 12 and 18 months.
As a level 2 screening method to identify 2-year-olds with autism and other developmental abnormalities, the Screening Tool for Autism in Toddlers & Young Children (STAT) offers encouraging results.
For kids aged 4 and older, there is the Social Communication Questionnaire (SCQ), formerly known as the Autism Screening Questionnaire. Use with caution since it can reveal symptoms that are similar to those of other diseases.
ASD screening instruments for older children include the Developmental Behavior Checklist (ages 4 to 18 with intellectual challenges), Autism Spectrum Screening Questionnaire (ages 7 to 16), and Autism Spectrum Quotient-Child and Childhood Autism Spectrum Test (ages 4 to 11).


Initial examinations (lab, imaging)
The following tests should be performed: Chromosomal microarray (CMA), DNA analysis (fragile X), and karyotype testing; complete blood count; serum lead; thyroid-stimulating hormone; and PKU screening; metabolic testing; and a TORCH (toxoplasmosis, others [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus, and herpes) infection workup if


Tests in the Future & Special Considerations
Children with ASD should receive the same preventative treatment as normal kids because they have similar general health care needs.
Follow-up checkups and testing are advised in the event that comorbidities are present.
Take into account additional audiometric and brainstem auditory evoked response (BAER) testing, as well as audiological consultation.
Evaluation of speech and language by a multidisciplinary team that includes an autism specialist, a psychiatrist, a genetic counselor, a neurologist, and a psychologist.
The intellectual level of the patient must be determined and monitored The tests used to assess autism include the following:
- GARS, the Gilliam Autism Rating Scale
- CARS, the Childhood Autism Rating Scale
- Autism Diagnostic Observation Schedule-Generic (ADOSG) - Autism Diagnostic Interview-Revised (ADI-R)
If exhibiting indications or symptoms of seizures, diagnostic procedures or another electroencephalogram should be performed.

GENERAL TREATMENT MEASURES
Applied behavior analysis was utilized as a form of early, intense behavioral intervention with an emphasis on teaching and reinforcing appropriate behavior. To enhance cognitive, linguistic, and adaptive abilities, the treatment tackles social communication, language, play skills, and maladaptive behavior.
Targeted play therapy has helped children with ASD develop their early social communication abilities, and cognitive-behavioral therapy has been demonstrated to lessen anxiety in older ASD patients with IQs in the average to above-average range.
Parent education and training initiatives to enhance language proficiency and lessen disruptive behavior
Primary components of an educational program:
- Individualized instruction with a 1:2 staff-to-student ratio
- Specialized teacher preparation with continuous program and teacher evaluation
- Specialized services for 25 hours each week
- A routinely structured environment
- Continuous program evaluation and modification, along with routine functional examination of each child's behavioral issues

First Line: MEDICATION
Risperidone and aripiprazole are the two psychotropic drugs for ASD that the FDA has currently approved.
For the treatment of irritability, repetitive behaviors, and social disengagement, risperidone (authorized age >5 years; oral; 0.25 mg/day in 20 kg; 0.5 mg/day in >20 kg with effective dose range 0.5 to 3.0 mg/day PO split doses) has demonstrated short-term efficacy. Short-term irritation, repetitive motions, and oral aripiprazole (authorized ages 6 to 17 years; beginning dose 2 mg daily for 2 days, increase to 5 mg daily; max 15 mg/day) have all been successfully treated.
Stimulants (such methylphenidate) have been successful in treating impulsivity, hyperactivity, and inattention, which are concurrent symptoms of ADHD; however, the magnitude of the response is lower than in children who are typically developing, and side effects are common.

There is little proof that SSRIs cause autism. It has demonstrated promise in lowering ritualistic behavior, enhancing mood and linguistic proficiency, and serving as a first choice for anxiety and depressive mood.
Melatonin's effectiveness when administered by those who also have concurrent sleep problems has been inconsistent.


QUESTIONS FOR REFERENCE

Refer early for audiology, genetic counseling, and behavior and language evaluations. Think about referring patients to psychology, neurology, ophthalmology, and nutrition. Send family members to support organizations.

ALTERNATIVE & COMPLEMENTARY MEDICINE
Drugs like secretin, intravenous immunoglobulin, and vitamins and minerals have not demonstrated any benefit and may pose serious dangers.
Therapies like hyperbaric oxygen therapy and auditory integration therapy have not been effective.
Additional research should be done on therapies using music, massage, therapeutic horseback riding, and other animals.

CONTINUING CARE AFTERCARE RECOMMENDATIONS
Monitoring of the patient includes constant observation by the caretakers, evaluations every 6 to 12 months by the doctor for symptom and medical management, and testing for language and intellectual development every 2 years in children.

DIET There is no data to propose any specific dietary changes for ASD, and numerous randomized clinical trials have shown that gluten- and casein-free diets are ineffective.

PATIENT EDUCATION Financial costs: Families with ASD children earn less because of the caretaker burden.

The general predicted path is for a lifetime requirement for supervised structured care; some people will establish gainful jobs, independent living, and social interactions. The prognosis is determined by IQ, early intervention, the strength of early language abilities, and psychiatric comorbidities.

COMPLICATIONS Included are increased risks of physical and sexual abuse, lead poisoning, and gastrointestinal problems such irregular weight and stoma patterns.