Early Diagnosis of = Autism

&n= bsp; &nb= sp; &nbs= p; =20 Early Diagnosis of Autism

&n= bsp; &nb= sp; &nbs= p; = ; = &= nbsp; &n= bsp; =20 Dr.=20 Kangkan Pathak

&n= bsp; &nb= sp; &nbs= p; = ; = =20 Associate=20 Professor of Psychiatry

&n= bsp; &nb= sp; &nbs= p; = ; =20 LGB Regional Institute of Mental Health, = Tezpur

= Autism is=20 a behaviorally defined neurodevelopment disorder, which is the endpoint = of=20 several organic etiologies. The term "Autistic Spectrum Disorder" (ASD) = is often=20 used to include severe classic autism and other related conditions in = the autism=20 spectrum. Although its exact cause is not entirely known, it has been = well=20 established that early diagnosis and intervention are associated with = better=20 long-term results for management of the disorder.

= But to the=20 consternation of many parents, children with autism rarely receive a = diagnosis=20 before age 3 or 4. Early diagnosis is challenging because there is no = laboratory=20 test to detect it, nor one set of primary symptoms that define it. = Therefore,=20 the diagnosis is based on the presence or absence of a group of = symptoms. Autism=20 is difficult to diagnose in very young children because several of the=20 disorder=92s main symptoms=97such as the child=92s relationship with = peers=97involve=20 behaviors that don=92t fully develop in children until later in = childhood.=20 Diagnosis of autism is also difficult because the best early indicators = involve=20 the absence of consistent social and communication behaviors rather than = the=20 presence of an abnormality. There could be lots of reasons for not = seeing a=20 particular behavior because it=92s either not developing, or it could be = that the=20 child is not showing it at that time. But behavioral researchers believe = they=20 are homing in on specific behaviors that should drop the age of first = diagnosis=20 down to as young as 18 months. Developmental researchers increasingly = find that=20 there are critical periods of child development after which certain = systems=97such=20 as language, vision and motor skills=97become less malleable. Therefore, = it is=20 speculated that if researchers can learn how to diagnose autism in = children at=20 birth or several months after, they may be able to design interventions = which=20 will arrest the disorder before it develops. As geneticists begin to = locate=20 potential 'autism genes', behavioral researchers are fast developing=20 behavior-based diagnostic tools that will work at increasingly younger = ages.=20

=20 Although autism is usually diagnosed when the child is 3 to 4 = years old,=20 parents often sense that something is wrong much earlier. On average, = parents=20 start to worry about their child's development by 18 months of age and = express=20 their concerns by age 2. Early concerns noted by parents of children = with autism=20 can be due to additional learning disabilities rather than to specific=20 impairments associated with autism. However, early videos taken by = parents at=20 around the first birthday may show the features which discriminate the = child=20 later diagnosed as having autism from other children of the same age = .But=20 physicians and professionals are hesitant to diagnose autism at very = early ages=20 because, the early development of children varies and often uncertain if = a=20 behavior will persist into being considered atypical. If the child is = labeled=20 with a problem too early, parents may reduce expectations for the child = and=20 restrict the child's access to typical experiences and opportunities. = Thus,=20 professionals may take on a "wait and watch" stance that delays = diagnosis, and=20 ultimately the commencement of intervention services. Although such = concerns are=20 valid, the benefits of early diagnosis vastly outweigh the risks. As = many=20 studies have now shown, early intervention is critical for the best = outcome in=20 children with autism. A developmental "window," that is, the = readiness of=20 the brain for a specific learning, is open only for a certain = period. When=20 that opportunity is missed, the learning is likely to be limited in = spite of the=20 best efforts. So, the earlier the diagnosis, the better is = the=20 prognosis. However, it has not been possible to act because we did = not=20 have effective means of evaluating and diagnosing the condition of = autism in the=20 first couple of years of life. An accurate diagnosis must be based on=20 observation of the individual's communication, behavior, and = developmental=20 levels. However, because many of the behaviors associated with autism = are shared=20 by other disorders, various medical tests may be ordered to rule out or = identify=20 other possible causes of the symptoms being = exhibited.

A = brief=20 observation in a single setting cannot present a true picture of an = individual's=20 abilities and behaviors. Parental (and other caregivers') input and=20 developmental history are very important components of making an = accurate=20 diagnosis. At first glance, some persons with autism may appear to have = mental=20 retardation, a behavior disorder, problems with hearing, or even odd and = eccentric behavior. To complicate matters further, these conditions can = co-occur=20 with autism.

Philip Teitelbaum (1998) = reported=20 that disturbance of movement in autistic child may be detected clearly = at the=20 age of 4-6 months and sometimes even at birth. The Eshkol=96Wachman = Movement=20 Analysis System in combination with still-frame videodisc analysis was = used to=20 study videos obtained from parents of children who had been diagnosed as = autistic by conventional methods, usually around 3 years old. The videos = showed=20 their behaviors when they were infants, long before they had been = diagnosed as=20 autistic. The movement disorders varied from child to child. = Disturbances were=20 revealed in the shape of the mouth and in some or all of the milestones = of=20 development, including, lying, righting, sitting, crawling, and = walking. Every single autistic child demonstrated = at least=20 one movement disturbance by six months of age. Moebius mouth (flat lower = lip and=20 arched, oval shaped upper lip) was also present in a number of the = children.=20 According to Dr. Teitelbaum, not all autistic children have this = feature, but=20 when a child does have it, it=92s a possible indicator of autism. And = since the=20 condition is noticeable in autistic infants as young as one month old, = moebius=20 mouth may prove to be one of the very earliest signs of the disorder. = The=20 findings support the view that movement disturbances play an intrinsic = part in=20 the phenomenon of autism, that they are present at birth, and that they = can be=20 used to diagnose the presence of autism in the first few months of=20 life.

= According to=20 Professor Teitelbaum, autistic children learn to sit up, turn over and = crawl in=20 noticeably different manner than normal children. He believes that this=20 difference in movement is caused by the same wiring problem in the = central=20 nervous system that later causes the social/verbal symptoms commonly = associated=20 with the condition.

= Jennifer=20 Pinto-Martin and Susan E Levy (2004) also noted disturbances of movement = detected clearly at the age of 4-6 months, and sometimes even at birth = using the=20 same method. Many autistic children display hyperagility and = hyperdexterity. In=20 infancy, the movement disorders present in autism are clearest, not yet = masked=20 by other mechanisms that have developed to compensate for them. It is = possible=20 that they may vary according to the areas of the brain in which = developmental=20 delay or damage has occurred. For instance, Kemper and Bauman have = pointed out=20 from anatomical analysis of the brains of autistic individuals that the = limbic=20 system as well as the cerebellum may show small shrunken cells. = Courchesne has=20 evidence from MRI analysis that the cerebellum may show hypoplasia or = even=20 hyperplasia in certain regions of the cerebellum. By combining movement = analysis=20 in infancy with MRI analysis, it may be possible eventually to diagnose=20 differential areas of brain involvement in different subtypes of=20 autism.

In the = screening for=20 autism the following points are very important.

1)=20 Does the baby respond to his or her name when called by the caregiver?=20

2)=20 Does the young child engage in "joint attention"?

3)=20 Does the child imitate others?

4)=20 Does the child respond emotionally to others?

5)=20 Does the baby engage in pretend play?

It is = important to=20 note that in each of the 5 areas concern is with behaviors that are = absent or=20 occur at very low rates. The absence of certain behaviors may be more = difficult=20 to pinpoint than the presence of atypical behaviors. But concerns in any = of the=20 above areas should prompt thorough evaluation for autism. =

A = "developmental=20 screening" asking specific questions about baby's progress is very = crucial in=20 diagnosis of Autism. The role of pediatrician is very important. Several = screening instruments have been developed to quickly gather information = about a=20 child's social and communicative development within medical settings.=20

Some = screening=20 instruments rely solely on parent responses to a questionnaire, and some = rely on=20 a combination of parent report and observation. Key items on these = instruments=20 that appear to differentiate children with autism from other groups = before the=20 age of 2 include pointing and pretend play. Screening instruments do not = provide=20 individual diagnosis but serve to assess the need for referral for = possible=20 diagnosis of ASD. These screening methods may not identify children with = mild=20 ASD, such as those with high-functioning autism or Asperger=20 syndrome.

The second = stage of=20 diagnosis must be comprehensive in order to accurately rule in or rule = out an=20 ASD or other developmental problem. This evaluation may be done by a=20 multidisciplinary team that includes a psychologist, a neurologist, a=20 psychiatrist, a speech therapist, or other = professionals.

Diagnostic=20 Tools:

1.=20 CARS (Childhood Autism Rating Scale), developed by Eric Schopler in the = early=20 1970s. It aids in evaluating the child's body movements, adaptation to = change,=20 listening response, verbal communication, and relationship to people. It = is=20 suitable for use with children over 2 years of age. The examiner = observes the=20 child and also obtains relevant information from the parents. The = child's=20 behavior is rated on a 15-point scale based on deviation from the = typical=20 behavior of children of the same age

2.=20 The Checklist for Autism in Toddlers (CHAT) is used to screen for autism = at 18=20 months of age. It was developed by Simon Baron-Cohen in the early 1990s = to see=20 if autism could be detected in children as young as 18 months. The = screening=20 tool uses a short questionnaire with two sections, one prepared by the = parents,=20 the other by the child's family doctor or = pediatrician.

3.=20 The Autism Screening Questionnaire is a 40 item screening scale that has = been=20 used with children four and older to help evaluate communication skills = and=20 social functioning.

4.=20 The Screening Test for Autism in Two-Year Olds, developed by Wendy = Stone, uses=20 direct observations to study behavioral features in children under two. = She has=20 identified three skills areas - play, motor imitation, and joint = attention -=20 that seem to indicate autism.

5.=20 The Developmental Behaviour Checklist (DBC) Early Screen was developed = by=20 Ms Kylie Gray .The screening device is just for the use of GPs, pediatricians and early = childhood=20 services, to flag children who may be at risk of autism. The results = will=20 indicate if a child needs to be taken for specialist autism=20 assessment.

6.=20 Autism Diagnosis Interview-Revised (ADI-R) and the Autism Diagnostic = Observation=20 Schedule (ADOS-G). The ADI-R is a structured interview that contains = over 100=20 items and is conducted with a caregiver. It consists of four main = factors-the=20 child's communication, social interaction, repetitive behaviors, and=20 age-of-onset symptoms. The ADOS-G, designed by Catherine Lord, is an=20 observational measure used to "press" for socio-communicative behaviors = that are=20 often delayed, abnormal, or absent in children with = ASD.

7.=20 The Early Screening for Autistic Traits or ESAT developed in Holland and = designed to try to identify children with autism around age 15 to 18 = months.=20

The problem with these = screening=20 tests is the opposite of what is expected. Missed diagnosis and = misdiagnosis are=20 common.=20 The use of standardized assessment instruments and the strict = application of the=20 DSM and ICD diagnostic criteria need to be employed with caution. An = expert=20 clinical view has been shown to be more effective. An important aspect = of early=20 diagnostic consultation is an open and straightforward approach to the=20 negotiation of the diagnostic view with parents over = time.

Researchers = face a paradoxical situation while developing behavioural tools for = screening=20 and diagnosing children with autism at age 2 and younger. It is = difficult to=20 prove that their early diagnosis was right if the children they diagnose = at 18=20 months enter into interventions that help treat their dysfunction. It is = difficult to say whether the diagnosis was wrong at age 2 or whether the = intervention worked so well that the diagnosis is no longer valid.

That=92s why most = researchers=20 hope they will find some biological markers .There is some progress in = this area=20 e.g. elevated levels of immune system B cells and natural killer cells, = and more=20 than 100 proteins (Amaral) and lower levels of cytokines (Water). = Genetic=20 markers for autism =20 (e.g.endophenotypic traits such as large head size in family = members,=20 parents' abnormal brain processing of faces, and the degree to which = relatives=20 of autistic children can read another person's mental state) that could accurately diagnose = autism at=20 birth and would bolster the behavioral measures are being studied. Some = teams=20 are well on the way toward finding one or several autism genes, and = others are=20 using neuroimaging to search for specific anatomical or functional = differences=20 in the brains of people with autism.

= Although autism=20 is now agreed to be a neurobiological disorder, results from structural = brain=20 scans have not shown consistency of diagnostic markers. However, = functional=20 imaging has shown abnormalities of face processing (the area of the = fusiform=20 nucleus) in several studies. However, having something that is solid = enough for=20 diagnosing the disorder is still a far cry.

References:

1.=20 Philip Teitelbaum, Osnat Teitelbaum, Jennifer Nye, Joshua Fryman, & = Ralph G.=20 Maureer (1998), Movement analysis in infancy may be useful for early = diagnosis=20 of autism. Psychology, Vol. 95, pp. 13982=9613987, =

2.=20 Jennifer Pinto-Martin and Susan E Levy (2004), Early Diagnosis of Autism = Spectrum Disorders. Current Treatment Options in Neurology 2004,=20 6:391-400

3.=20 Lenny Schafer(2000).Guidelines for the Early Screening of Autism ;Early=20 Detection Critical. The American Academy of = Pediatrics

4. = The=20 Diagnosis of Autism: An Expert Interview with Catherine Lord, PhD; = Posted=20 07/11/2005;http://www.ynhh.org

5. Kim Painter (2005).=20 Autism now diagnosed early.=20 Special=20 for USA TODAY =20

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