THE DIAGNOSIS OF AUTISM SPECTRUM DISORDERS

Although there are many concerns about labeling a young child with an ASD, the earlier the diagnosis of ASD is made, the earlier needed interventions can begin. Evidence over the last 15 years indicates that intensive early intervention in optimal educational setting for at least 2 years the preschool years result in improved outcomes in most young children with ASD.

In evaluating a child, clinicians rely on behavioral characteristics to make a diagnosis. Some of the characteristics behaviors of ASD may be apparent in the first few months of child’s life, or they may appear at any time during the early years. For the diagnosis, problems in at least of the areas of communication, socialization, or restricted behavior must be present before the age of 3. The diagnosis requires a two-stage process. The first stage involves developmental screening during “well child” check-ups; the second stage entails a comprehensive evaluation by a multidisciplinary team.

Screening

A well child check up should include a developmental screening test. If your child’s pediatrician does not routinely check your child with such a test, ask that it be done. Your own observations and concerns about your child’s development will be essential in helping to screen your child. Reviewing family videotapes, photos, and baby albums can help parents remember when each behavior was first noticed and when the child reached certain developmental milestones.

Some screening instruments have been developed to quickly gather information about a child’s social and communicative development within medical settings. Among them are the checklist of Autism in Toddlers (CHAT), the modified checklist for autism in Toddlers (M-CHAT), the screening tool for Autism in Two-Years-Olds (STAT), and the Social Communication Questionnaire (SCQ) (for children 4 years of age and older).

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

During the last few years, screening instruments have been devised to screen for Asperger syndrome and higher functioning autism. The Autism spectrum screening questionnaire (ASSQ), the Australian scale for Asperger syndrome, and most recent, the childhood Asperger syndrome test (CAST), are the some of the instruments that are reliable for identification of school age children with Asperger syndrome or higher functioning autism. These tools concentrate on social and behavioral impairments in children without significant language delay.

If, following the screening process or during a routine “well child” check up, your child’s doctor sees any of the possible indicators of ASD, further evaluation is indicated.

Comprehensive Diagnostic Evaluation

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

Because ASDs are complex disorders and may involve other neurological or genetic problems, a comprehensive evaluation should entail neuralgic and genetic assessment, along with in depth cognitive and language testing. In addition, measures developed specifically for diagnosing autism are often used. These include the Autism Diagnosing autism are often used. These include the Autism Diagnosis Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-G). The ADI-R is a structured interview that contains over 1000 items and is conducted with a caregiver. It consists of four main factors—the child’s communication, social interaction, repetitive behaviors, and age of onset symptoms. The ADOS-G is an observational measure used to “press” for socio-communicative behaviors that are often delayed, abnormal, or absent in children with ASD.

Still another instrument often used by professionals is the childhood autism. Rating Scale (CARS). It aids in evaluating the child’s body movements, adaptation to change, listening response, verbal communication, and relationship to people. It is suitable for use with children over 2 years of age the examination observes the child also obtains relevant information from the parents. The child’s behavior is rated on a scale based on deviation form the typical behavior of children of the same age.

Two other tests should be used to assess any child with a developmental delay are a formal audio-logic hearing evaluation and a lead screening. Although some hearing loss can co-occur with ASD, some children with ASD may be incorrectly thought to have such a loss. In addition, if the child has suffered from an ear infection, transient hearing loss can occur. Lead screening is essential for children who remain for a long period of time in the oral monitor stage in which they put any everything into their mouths. Children with an autistic disorder usually have elevated blood lead levels.

Customarily, an expert diagnostic team has responsibility of thoroughly evaluating the child, assessing the child’s unique strengths and weakness, and determining a formal diagnosis. The team will then meet wit parents to explain the results of the evaluation.

Although parents may have been aware that something was not “quite right” with their child, when the diagnosis is given, it is devastating blow. At such a time. It is hard to stay focused on asking questions. But while members of the evaluation team are together is the best opportunity the parents will have to take for their child. Learning as much as possible at this meeting is very important, but it is helpful to leave this meeting with the name or names of professionals who can be contacted if the parents have further questions.

MICRO-CEPHALY

What is microcephaly?

Microcephaly is a condition that is present at birth in which the baby’s head is much smaller than normal for an infant of that age and gender. “Micro” means small and cephaly refers to head. Most children with microcephaly also have a small brain and mental retardation. However, some children with small heads have normal intelligence.

What causes microcephaly?

Microcephaly is either caused by exposure to harmful substance during the fetal development, or it may be associated with genetic problems or syndromes that may have a tendency to run in families.

Theories suggest that the following ay predispose a fetus to problems that affect the normal development of the head during pregnancy:

• Exposure to hazardous chemicals/substance
• Exposure to retardation
• Lack of proper vitamins and nutrients in the diet
• Infection
• Prescription or illegal drug and alcohol consumption
• Maternal diabetes

Microcephaly can occur alone or in association with other health problems, and may occur from inheritance of an auto-somal recessive, or rarely, an auto-somal dominant gene. Acquired microcephaly may occur after birth due to various brains injuries such as lack of oxygen or infection.

Auto-somal recessive and auto-somal dominant are to patterns in which genes are inherited in a family. Genes determine out traits, such as eye color and blood type, and can also cause disease. Auto-somal means that both males and females are equally affected. Recessive means that two copies of the gene, one inherited from each parent, are necessary to have the condition (in this case, microcephaly). After parents have had one child with auto-somal recessive microcephaly, there is a 25 percent chance, or one in

four chances, with each pregnancy, to have another child with microcephaly.

What are symptoms of Microcephaly?

The following are the most common symptoms of microcephaly. However, each child may experience symptoms differently. Symptoms may include:

• Appearance of the baby’s head is very small
• High-pitched cry
• Poor feeding
• Seizures
• Increased movement of the arms and legs (spasticity)
• Developmental delays
• Mental retardation

The symptoms of microcephaly may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.

How is microcephaly diagnosed?

Microcephaly may be diagnosed before the birth by prenatal ultrasound, a diagnostic imaging technique which uses the high frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to view the internal organs as they function, and to assess the blood flow through various vessels.

In many cases, microcephaly may not be evident by ultrasound until the third trimester, and therefore may not be seen on ultrasound preformed earlier in pregnancy. The diagnosis of microcephaly may be made at birth or later in the infancy. The baby’s head circumference is much smaller than normal. During the physical examination, the physician obtains a complete prenatal and birth history of the child. In older babies and children, the physician may also risk if there are a family history of the microcephaly or others medical problems. The physician will also ask about developmental milestones since microcephaly can be associated with other problems, such as mental retardation. Developmental delays may require further medical follow up for underlying problems.

A measurement of the circumference of the child’s head is taken and compared to a scale that can identify normal and abnormal ranges.

Diagnostic tests that may be performed to confirm the diagnosis of microcephaly and identify abnormalities in the brain include:

• Head circumference – this measurement is compared with a scale for normal growth and size
• X-ray – a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• Computed tomography scan (also called a CT or a CAT scan). – A diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including bones, muscles, fat and organs. CT scan are more detailed than the x-rays.
• Magnetic resonance imaging (MRI) – a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
• Blood tests
• Urine tests

Life-long considerations for a child with microcephaly:

There is no treatment for microcephaly that will return the baby’s head to a normal size or shape. Since microcephaly is a life-long condition that is not correctable, management includes focusing on preventing or minimizing deformities and maximizing the child’s capabilities at home and in the community. Positive reinforcement will encourage the child to strengthen his/her self-esteem and promote as much independence as possible.

The full extent of the problem is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Children born with microcephaly require frequent examination and diagnostic testing by their physician to monitor the development of the head as the child grows. The medical team work hard with the child’s family to provide education and guidance to improve the health and well being of the child.

Genetic counseling may be recommended by the physician to provide information on the recurrence risks for the disorder and any available testing.