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10. Are there other diseases that have the same symptoms of autism?

autism

“THE AUTISM AWARENESS RIBBON- The puzzle pattern of this ribbon represents the mystery and complexity of autism. The different colours and shapes represent the diversity of people and families living with autism. The brightness of the ribbon signals hope- hope through researching and increasing awareness in people like you”

-Single Mothers of Children with Autism.

When a child is brought to the pediatrician and the parents report that their child is not speaking yet, the pediatrician considers several possible diagnoses, one of which is autism. Because several conditions may be confused with autism, the pediatrician must be careful when making the final determination about a child’s disorder and its management. Any condition that may be associated with language delay, especially those that are treatable, must be considered.

 Hearing loss: Every child with a language delay just has a hearing test. Confusion is common because deaf children can mimic autistic symptoms.  For example, a deaf child may present with “pervasive ignoring,” production of unusual sounds, and poor socialization because he or she is unable to hear the sounds or speech around him. He may exhibit poor eye contact because he can’t coordinate his eyes to the direction of the sound. Frustration in a lack of ability to communicate may result in temper tantrums. Children with deafness who are treated early and appropriately will make a rapid recovery of lost language. For this reason, a hearing test is always important to obtain in a child with a speech delay (even if the parents think their child can hear) because the hearing loss may be partial or selective to different frequencies.

 William’s comment: We had to jump through the hoop of having our child undergo a hearing test, even though everyone knew that wasn’t the problem.

Mental retardation: Another condition that may mimic autism is mental retardation. It may present with speech delay, and, if severe enough, self-stimulatory behaviors and other autistic characteristics may be associated. A common cause of mental retardation is Down syndrome. This occurs in approximately 1 in 800 births. Although rare, some scientific studies have found subjects with Down syndrome and autism. Although autism is rare in persons with Down syndrome, it should be considered in the range of diagnostic possibilities for persons with this syndrome. When autism affects a child with Down syndrome, the effects are quite severe and, therefore, the autism condition must be the priority condition.

Acquired epileptiform aphasia (also known as Landau-Kleffner syndrome): Landau-Kleffner syndrome is a rare form of childhood epilepsy that is associated with a severe language disorder. The cause of Landau-Kleffner syndrome is unknown. The syndrome occurs in young children, mostly older than 3 years of age but occasionally younger.

They develop seizure activity and have associated autistic regression and loss of acquired speech. Because of that, it is recommended that physicians obtain an EEG (sleep deprived or 24-hour recording) on those autistic children who have a history of loss of acquired speech and behavioral regression. The Landau-Kleffner syndrome can be successfully treated with antiepileptic drugs and ACTH.

Fragile X syndrome: Fragile X syndrome is one of the most common causes of genetically inherited mental retardation. Mental impairment can range from subtle learning disabilities and a normal IQ to severe cognitive or intellectual challenges. Other symptoms often include unique physical characteristics (e.g., long face with a prominent jaw and large prominent ears), behavioral deficits, and delays in speech and language development that mimic autistic-like behavior.

The syndrome is called “fragile X” because there exists a fragile site or gap at the end of the long arm of the X chromosome in lymphocytes of affected patients. Carrier females typically have a 30 to 40 percent chance of giving birth to a retarded male and a 15 to 20 percent chance of having a retarded female.

Further, there frequently exists a maternal family history for a relative with mental retardation or developmental and learning disabilities. Most studies have dealt with recognition of this syndrome in older children and young adults, but many of the physical features, behavioral characteristics, and family history features are apparent earlier. Experts suggest that all children with autism should be tested for fragile X syndrome.

Childhood schizophrenia: This rare disorder can mimic autism. Childhood schizophrenia occurs in less than 1 in 10,000 births and affects slightly more males than females. This condition usually develops after 5 years of age and is associated with a higher IQ score (more than 70) than what is found with autism. The typical patterns of behavior before a formal diagnosis include problems with attention and conduct, social withdrawal, and hypersensitivity to sounds, noises, and textures. More than 80 percent of children have auditory hallucinations; 50 percent have delusional beliefs.

Tuberous sclerosis: This affects approximately 1 in 10,000 people and is characterized by abnormal tissue growth or benign tumors in the brain and other organs such as the skin, kidneys, eyes, heart, and lungs. Autistic-like symptoms were first described in patients with tuberous sclerosis a decade before Kanner’s classic delineation of infantile autism.

These early noted symptoms include stereotypes, absent or abnormal speech, withdrawal, and impaired interactions. Today, the Tuberous Sclerosis Society suggests that approximately 60 percent of its membership have autism or autistic-like behavior or symptoms.

Williams syndrome: Williams syndrome is a rare genetic  condition (estimated to occur in 1 in 20,000 births) that causes medical and developmental problems. Williams syndrome was first recognized as a distinct entity in 1961. It is present at birth and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world. It is caused, in most cases, by a deletion in one of the chromosomes that contain the gene for the protein elastin. People with Williams syndrome often show a distinctive cognitive profile.

They have some degree of intellectual handicap as well as developmental delays in their “milestones” such as walking, talking, and toilet training. Children with Williams syndrome have some typical autistic traits including distractibility.

The distractibility seems to get worse in mid-childhood, but appears to get better as the children get older. Other “autistic traits” common in Williams syndrome include extreme hearing sensitivity, obsessive worrying, perseveration, repetitive purposeless movements, difficulties relating to peers, and body rocking. Despite these similarities, children with Williams can be distinguished from autistic children because of other characteristics. These characteristics include:

A very friendly and endearing personality

  • Strong expressive language skills
  • They are typically unafraid of strangers.
  • They demonstrate a greater interest in contact with adults than with their peers.
  • Relations between Williams syndrome and autism have not yet been widely studied.

Cornelia de Lange syndrome: Cornelia de Lange syndrome (CDLS) is a multiple congenital anomaly syndrome. The exact incidence is unclear, but it is thought to be between 1 in 10,000 and 1 in 30,000 live births. The syndrome is characterized by the following:

  • A distinctive facial appearance, including a small head size, eyebrows that meet at the mid-line, long eyelashes, short up-turned nose, and thin down-turned lips
  • Prenatal and postnatal growth deficiency (low birth weight)
  • Feeding difficulties
  • Delays in reaching typical developmental milestones (especially in receptive and expressive language)
  • Behavioral problems (heightened sensitivity to touch; behavioral difficulties including hyperactivity, short attention span, oppositional and repetitive behavior, and self-injurious behavior [SIB])
  • Physical malformations involving the arms and hands

 

Because these behavioral characteristics are similar in many ways to those present in individuals with autism, “autistic-like behaviors” are listed as an associated complication for individuals with Cornelia de Lange syndrome.

Terms:

Because several conditions may be confused with autism, the pediatrician must be careful when making the final determination about a child’s disorder and its management.

Landau-Kleffner Syndrome - A syndrome characterized by a progressive loss of the ability to understand language and use speech, following a period of normal speech development. It is accompanied by seizure activity and is typically diagnosed through a sleep EEG. Also known as acquired aphasia with convulsive disorder.

Autistic regression - A loss of previously acquired skills including language, sociability, play, and cognition. This regression occurs in about one third of autistic children. The cause of this regression is unknown.

Fragile X Syndrome - A genetic disorder that shares many of the characteristics of autism. Individuals can be tested for fragile X by having a chromosome test performed.

Tuberous sclerosis - A neurocutaneous disorder characterized by mental retardation, seizures, skin lesions, and intracranial lesions. It is caused by a dominant gene and occurs in 1 in 7,000 birth.

Developmental Delays - A term used to describe the development of children who have not reached various milestones in the time frame that is typical for children of his or her chronological age; may occur in one or more areas of functioning.

Perseveration - This refers to a persistent and often purposeless repetition of speech or movement.

Congenital - Any trait or condition that exists from birth.

Self-injurious Behavior (SIB) - Self-inflicted bodily harm; harm done to the self by an individual. Individuals with an autistic spectrum disorder are often prone to self-injurious behavior.

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