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.

RARE AUTISM SPECTRUM DISORDERS

Rett syndrome is relatively rare, affecting almost exclusively females, one out of 10,000 to 15,000. After a period of normal development, sometime between 6 and 18 months, autism-like symptoms begin to appear. The little girl’s mental and social development regresses—she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops: she cannot control her feet: she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational and speech therapy can help with problems of coordination, movement and speech.

Scientists sponsored by the national institute of child health and human development have discovered that a mutation in the sequence of a single gene can cause Rett syndrome. This discovery may help doctors slow or stop the progress of the syndrome. It may also lead to methods of screening for Rett syndrome, thus enabling doctors to start treating these children much sooner, and improving the quality of life these children experience.

What are the autism spectrum disorders?

The autism spectrum disorders are more common in the pediatric population than are some better known disorders such as diabetes, spinal befida, or Down syndrome. Prevalence studies have been done in several states and also in the Untied Kingdom, Europe and Asia. A recent study of a U.S. metropolitan area estimated that 3.4 of every 1,000 children 3-10 years old autism. This wide range of prevalence points to need for earlier and more accurate screening for the symptoms of ASD.

The earlier the disorder is diagnosed the sooner the child can be helped through treatment interventions, pediatricians, family physician, day-care providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will catch up. Although early intervention has a dramatic impact on reducing symptoms and increasing a child’s ability to grow and learn new skills, it is estimated that only 50 percent of children are diagnosed before kindergarten.

All children with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look.

Each of these symptoms runs the gamut from mild to severe. They will present in each individual child differently. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD.

Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child lags further behind other unusual behaviors become apparent. Some other children start off well enough. Oftentimes between 12 and 36 months old, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and their children start to rejects people, act strangely and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable.

ASD is defined by a certain set of behaviors that can range from the very mild to the severe. The following possible indicators of ASD were identified on the Public Health Training Network Web cast, Autism among US.

MULTIPLE VULNERABILITIES

Many, if not most, of the people with mental retardation convicted of capital murder are doubly and triply disadvantaged. In general, America’s prison population is made up disproportionately of poor people, minorities, the mentally ill, and those who were abused as children. Not surprisingly, the mentally retarded people who become enmeshed in the criminal justice system usually share one or more of these characteristics: many of them come from poor families, suffered from severe abuse as children, and/or face mental illness in addition to their retardation.

A history of severe childhood abuse is particularly common among defendants with mental retardation convicted of capital murder. While the relationship between abuse and adult behavior is complex, "Strong evidence exists that a person who was abused as a child is at risk of suffering long-term effects that may contribute to his violent behavior as an adult," particularly if the abuse was severe physical abuse that caused serious injury to the child. The long-term negative effects of childhood abuse may be even greater for people whose cognitive abilities are impaired and whose ability to navigate in the world is already seriously compromised by mental retardation.

Luis Mata was executed in Arizona in 1996, convicted of rape and murder. Mata suffered organic brain damage from multiple medical traumas and had an I.Q. tested variously between 63 and 70. Mata's alcoholic father beat all of his sixteen children, but he picked primarily on Luis, subjecting him to constant physical abuse--kicking him, punching him, and beating him with electrical cords. When Luis Mata was six, he fall off a truck, badly fracturing his skull, but his family was too poor to obtain medical treatment for him. This and other medical traumas may have contribute to his neurological deficits.

Freddie Lee Hall, with an I.Q. of 60, is on death row in Florida, convicted of killing a young pregnant woman, Hall was one of seventeen children in an impoverished family. As a child, he was "tortured by his mother, sometimes stuffed in a sack and swung over a fire, or tied to the rafters and beaten." His mother even encouraged neighbors to beat her son, and she buried him in the ground as a "cure" for his asthma.

Robert Anthony Carter, who had mental retardation, was convicted of a murder committed when he was seventeen and was executed in 1998. One of sic children, Carter was abused by both his mother and stepfather, who whipped and beat him with belts and cords. Carter's siblings would be forced to hold him down while his mother beat him. At other times, his mother would wait until Carter was asleep and then begin to whip him. He also suffered from several serious head injuries as a child - including one in which he was hit so hard with a baseball bat on the head that the bat broke.

Many capital defendants with mental retardation also suffer from mental illness. Although the two conditions are often confused, they are different disorders. Mental illness almost always includes disturbance of some sort in emotional life; intellectual functioning may be intact, except where thinking breaks with reality (as in hallucinations). A person who is mentally ill, e.g. who is bipolar or suffers from schizophrenia, can have a very high I.Q., while mentally retarded person always has a low I.Q.  A person who is mentally ill, e.g. who is bipolar or suffers from schizophrenia, can have a very high I.Q., while a mentally retarded person always has a low I.Q. A person who is mentally ill may improve or be cured with therapy or medication, but mental retardation is a permanent state. Finally, mental illness may develop during any stage of life, while mental retardation is manifest by the age of eighteen. The percentage of mentally retarded people who are also mentally ill is not known with any certainty; estimates vary from 10 percent to 40 percent. Persons who suffer from both mental illness and mental retardation are particularly disadvantaged in dealing with the criminal justice system because each condition can compound the effects of the other.

Nollie Lee Martin had an I.Q. of 59 and was further mentally impaired as a result of several serious head injuries he had received in childhood. As a child he was physically and sexually abused and came from a family with a history of schizophrenia. His mental history included psychosis, suicidal depression, paranoid delusions, and self-mutilation. After being convicted in 1978 of kidnapping, robbery, and murder in Florida, Martin spent more than thirteen years on death row mostly incoherent and rocking back and forth on the floor of his cell. He required constant medication for his mental illness and hallucinations. He beat his head and fists against the cell wall and would mutilate himself. He was executed in 1992.

Emile Duhamel was convicted of the aggravated sexual assault and murder of a nine-year-old girl in 1984. He had an I.Q. of 56 and organic brain disease and suffered as well from paranoid schizophrenia and dementia. After a decade of legal proceedings over his competency for execution, Duhamel died in his Texas death row cell in 1998.

For the most part, statutes prohibiting the execution of persons with mental retardation adopt a version of this AAMR definition Seven States and the federal government do not specify an I.Q. level in their definition, making this an issue for the court to determine based on expert testimony. Two state statutes say that an I.Q. of 70 or below "shall be presumptive evidence of mental retardation," thus leaving open the possibility that a person whose I.Q. is above 70 may also, through expert testimony, estabilish his or her mental retardation.

The intellectual capacity of children was historically the benchmark for assessing the extent of retardation. In 1910, the American Association on Mental Deficiency identifies the three "levels of impairment" characterizing the "feebleminded”: there were "idiots", people "whose development is arrested at the level of a 2 year old";imbeciles," people whose development is equivalent to that of a 2 to 7 year old at maturity"; and morons," people "whose mental development is equivalent to that of a 7 to 12 year old at maturity." Fred J. Biasini, et al., The  terminology entered common discourse as epithets reflecting the country's shameful history of prejudice and mistreatment of people with mental retardation. The punitive, exclusionary, and racist historical manipulation of the concept of "mental retardation" are addressed in Robert Perske, Deadly Innocence?

With the upper ceiling on mental retardation reduced from an I.Q. of 85 to an I.Q. of 70, far fewer Americans are today diagnosed as "mentally retarded" than before. Although the lower I.Q. ceiling for mental retardation was agreed upon in part to avoid applying stigmatizing labels to so many people whose intelligence was below average, the changed I.Q. ceiling ironically had the effect of cutting from social services such as special education many people who would have otherwise benefited from the extra support. Scholars have emphasized that because of the possibilities of testing error, a person with an I.Q. of up to 75 should be considered "retarded" if the diagnoses is necessary to ensure access to special education or other assistance.

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.

MANIFESTATIONS BEFORE THE AGE OF EIGHTEEN

Mental retardation is present from childhood. It can be caused by any condition which impairs development of the brain before, during, or after birth. The causes are numerous: hereditary factors; genetic abnormalities (e.g. Down’s syndrome); poor prenatal care; infections during pregnancy; abnormal delivery; illness during infancy; toxic substances )e.g. consumption of alcohol by the pregnant mother; exposure of the child to lead, mercury or other environmental toxins); physical abuse; and malnutrition, among others. Regardless of the cause, part of the definition of mental retardation is that it manifests itself during an individual’s developmental period, usually deemed to be birth through age eighteen. Many psychiatrists argue that the age before which signs of retardation must become manifest should be raised from eighteen to twenty-two, to reflect the difficulties in obtaining accurate age records for many people with this disability and the differing rates at which people develop.

An ordinary adult cannot suddenly “become” mentally retarded. An adult may, for reasons related to accident or illness, suffer a catastrophic loss in intellectual functioning and adaptive skills, but this would not make him or her “mentally retarded.” Since by definition mental retardation starts during childhood. One implications of this is that mental retardation is virtually impossible for an adult to fake: when evaluating whether an adult is mentally retarded, testers look not only at I.Q. test results, but also at school reports, childhood test records, and other evidence that would show whether his or her intellectual and adaptive problems developed during childhood.

Early diagnosis can help the person with mental retardation obtain access to appropriate special education, training, clinical programs, and social services during important developmental years – as well as through life. With help from family, social workers, teachers, and friends, many mentally retarded people succeed in simple jobs, maintain their own households, marry, and give birth to children of normal intelligence. But, although support and services can improve the life functioning and opportunities for a person with retardation, they cannot cure the condition. There is no “Cure’ or mental retardation.

FACTORS IN LIFESTYLES OR ENVIRONMENT

One study has reported an association between low socioeconomics status and holo-prosencephaly risk. However, this observation has not been confirmed.

A case-control study found a suggestion of an association between cytogenetically normal holo-prosencephaly and maternal alcohol consumption during early pregnancy. Maternal smoking, respiratory illness medications, and salicylate-containing medication have also shown tera-togenic effects (Coren 2000). However, some of these associations were not statistically significant. Another study reported no significant link between alcohol, smoking, or x-ray exposure and holo-prosencephaly risk (Cohen 1989). An investigation failed identifies any significant association between holo-prosencephaly and proximity to various types of industry (Castilla 2000).

Maternal diabetes has been reported by several studies to increase holo-prosencephaly (Becerra 1990). It should be noticed that diabetes causes a series of metabolic disturbances, and these disturbances interfere with fetal development. Other metabolic disturbances, including cholesterol production, can affect the sonic Hedgehog (Shh) signaling pathway (Cohen 2002).

Other maternal factors that have been tentatively associated with holo-prosencephaly, based on anecdotal evidence or studies involving small numbers of cases, include retinoic acid, salicylate, estrogen/progestin, anticonvulsant, weight reduction diets and/or low maternal weight, previous pregnancy loss, and congenital infection with cytomegalovirus, rubella, and toxoplasmosis (Croen 1996).  One survey that involved a small number of cases failed to identify any association between holo-prosencephaly and retinoic acid (De Wals 1991). A case-control study suggests that risk of holo-prosencephaly may be increased with maternal use of misoprostol, a synthetic prostaglandin used for elective termination (Orioli 2000).

There is no information available about the use of multivitamins and folic acid to reduce the incidence of holo-prosencephaly (Czeizel 2004). Maternal residence and vicinity to solid waste incinerators or landfills does not increase the incidence of holo-prosencephaly (Cordier 2004), nor does maternal exposure to pesticides (Berkowitz 2003), biological solvents (Wennborg 2005), or marijuana (Fried 2000).

Prevalence

Birth prevalence in the United States for hypo-plastic left heart syndrome is no currently known. The rate in Texas for 1999-2002 deliveries was 1.21 cases per 10,000 live births (Texas Department of State Health Services 2005). Differences in prevalence may be due to differences in case inclusion criteria.