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If a metabolic disorder is suspected, The DAN (Defeat Autism Now!) protocol may be used to pinpoint it. Tests for possible metabolic deficits are outlined in the report entitled Clinical Assessment Options For Children With Autism And Related Disorders. This report emanated from a conference of Autism professionals (the Defeat Autism Now! conference) in January 1995. This report is written as a guide for doctors and parents seeking to narrow down the specific metabolic errors in their autistic children. This report is available from the Autism Research Institute in San Diego, California.

The tests in these protocols include the following:

• Urinary Peptides
• Organic Acids
• Gluten Sensitivity
• Stool Analysis
• Bowel Permeability
• Secretory lgA
• Liver detoxification
• Amino Acid Analysis
• Folic Acid/Methylmalonic Acid
• Minerals
• Erythrocyte Glutathione Peroxidase Activity
• Food Allergies
• Immunological Tests
• Genetic Tests

Laboratory examinations

1. Blood tests:

• Whole blood: serotonin -chromosomal culture [g-banded chromosomes, Fragile- X by DNA probe]
• Serum: phenylalaline, pyruvic acid, lactic acid, herpes, cytomegalovirus titres
• Red blood cell magnesium

2. Twenty-four hour urine for:

• uric acid
• organic acids
• calcium and phosphorus
• magnesium
• Homovanillic acid (HVA)
• creatinine (to check adequacy of 24-hour urine and for calculation of ratios)

3. Cerebrospinal fluid:

• protein electrophoresis to rule out progressive encephalopathy.

4. Other laboratory tests:

• Opthomological examination
• Auditory examination, include brainstem AEP if child is language delayed
• EEG [where indicated]
• MRI [where indicated]

5. Evaluation for abnormal reflexes:

• Snout reflex - primitive reflex in infants, an involuntary pouting elicited by tapping the center of the closed lips.
• Visual routing reflex - another primitive reflex, an involuntary rooting in response to the sight of food.
• Milkmaid sign - a sign of underlying basal ganglia disease; the examiner "milks" the finger of the patient as if milking a cow; the sign is positive if the finger tremors.

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The following excerpts are taken from:

A Report to the Legislature Changes in the Population of Persons with Autism and Pervasive Developmental Disorders in California's Developmental Services System: 1987 through 1998 California Health and Human Services Agency Department of Developmental Services 1600 Ninth Street, Room 240 Sacramento, CA 95814

 

(See the Autism Research Institute's Website to obtain the full text of this report)

 

Description of Autism:

Autism is a profound and poorly understood developmental disorder that severely impairs a person's abilities, particularly in the areas of language and social relations. Autistic children typically are normal in appearance and physically well developed. Their disabilities in communication and comprehension range from profound to mild. Historically, about 75 percent of persons with autism are classified as mentally retarded. Their most distinctive feature, however - which helps distinguish them from those solely mentally retarded - is that they seem isolated from the world around them.

Autism is manifest uniquely and heterogeneously in a given individual as a collection of symptoms which are rarely the same from one individual to another. Two children with the same diagnosis, intellectual ability and family resources are more likely to be recognized more for their differences than their similarities. Variation in the degree of impact on the individual is well documented and subtypes of the disorder have been identified. The professional community continues to work to clarify the confusion and controversy concerning the nature, causes, methods of diagnosis, and treatment of autism. As research has uncovered subtle differences in the onset and development of symptoms, different types of autism have been described. The current Diagnostic and Statistical Manual Fourth Edition (DSM IV), published in 1994, identifies five different disorders referred to collectively as the pervasive developmental disorders (PDDs).

There is no single adjective that can be used to describe every person with autism because the disorder is manifest in many different forms. For example, some individuals are antisocial, some are asocial, and others are partially social. Some are aggressive toward themselves and/or aggressive toward others. Approximately half have little or no language. Perhaps 25 percent repeat (echo) words and/or phrases, and another 25 percent may be capable of acquiring nearly normal language skills.

Persons with autism, compared to other disabled persons of commensurate ability, are more difficult to teach. Comparatively, persons with autism have significantly greater problems acquiring and using language and relating socially. They are rarely able to work productively in the mainstream of employment. They sometimes appear detached, aloof, or in a dreamlike world. Many individuals oftern appear only vaguely aware of others in their environment, including family members. Another characteristic that differentiates autism from persons with a primary diagnosis of mental retardation is the much greater likelihood that the autistic person will display strange postures, mannerisms, habits, and compulsions. Ritualistic behavior, hand-flapping, unusual food preferences, absence of establishing eye contact, apparent insensitivity to pain, and self-injurious behaviors are sometimes seen in persons with autism. Appropriate play with other children or toys is uncommon. There is often a great interest in inanimate objects, especially mechanical devices and appliances.

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Pervasive Developmental Disorders:

The current Diagnostic and Statistical Manual Fourth Edition (DSM IV), published in 1994, identifies five different disorders referred to collectively as the pervasive developmental disorders. Those disorders include five separate diagnoses:

• Autistic Disorder, (299.00)
• Pervasive Developmental Disorder, NOS (not otherwise specified), (299.80)
• Asperger's Disorder, (299.80)
• Rett's Disorder, (299.80)
• Childhood Disintegrative Disorder, (299.10)

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Description of the Other PDD Disorders:

The following is a brief description of the other four pervasive developmental disorders:

1. Pervasive Developmental Disorder, NOS (PDD,NOS) is diagnosed when autistic symptoms are present but the full criteria for autistic disorder are not met. Therefore, persons diagnosed with PDD,NOS present with autistic symptoms, but typically are not as involved with the social and communication deficits as persons who meet the full criteria for autism. Generally, they are higher functioning and more responsive to treatment. PDD,NOS, along with Asperger's disorder, is thought by some researchers to be as common as autism.

2. Asperger's Disorder was first described by a German doctor, Hans Asperger, in 1944 (one year after Leo Kanner's first paper on autism). In his paper, Dr. Asperger discussed individuals who exhibited many idiosyncratic, odd-like behaviors. Unlike children with autism, children diagnosed with Asperger's disorder develop lucid speech before age four years and their grammar and vocabularies are usually adequate for normal conversation. Their speech is sometimes stilted and their repetitive voice tends to be flat and emotionless; their conversations revolve around themselves. Asperger's disorder is characterized by concrete and literal thinking. Persons with Asperger's disorder are usually obsessed with complex topics, weather, music, astronomy history, etc. Intellectual ability for most is in the normal to above normal range in verbal ability and in the below average range on tasks of visual-perceptual organization. Sometimes it is assumed that the individual who has autism and average mental ability has Asperger's disorder. However, it appears that there may be several forms of high-functioning autism, of which Asperger's disorder is only one form.

3. Rett's Disorder is a degenerative disorder which affects only females and usually develops between six months and 18 months of age. Some of their characteristic behaviors may include the following: loss of speech, repetitive hand-wringing, body rocking, and social withdrawal. Those individuals suffering from this disorder may be severely to profoundly mentally retarded. This disorder, along with childhood disintegrative disorder, is extremely rare.

4. Childhood Disintegrative Disorder (CDD) is included among the PDDs because these children apparently develop normally for two or more years before suffering a distinct regression in their abilities. Affected children lose previously acquired functional skills in expressive or receptive language, social skills or adaptive behavior including bowel or bladder control, play, or motor skills. Individuals with this disorder are rarer than persons with autism or one of the other PDDs; they exhibit the social, communicative and behavioral deficits observed in autism including loss of desire for social contact, diminished eye contact, and loss of nonverbal communication.

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DSM-IV Diagnostic criteria for 299.00 Autistic Disorder:

A.   A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):

(1) qualitative impairment in social interaction, as manifested by at least two of the following:

(a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

(b) failure to develop peer relationships appropriate to developmental level

(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)

(d) lack of social or emotional reciprocity

(2) qualitative impairments in communication as manifested by at least one of the following:

(a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

(b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

(c) stereotyped and repetitive use of language or idiosyncratic language

(d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

(3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least oneof the following:

(a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

(b) apparently inflexible adherence to specific, nonfunctional routines or rituals

(c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)

(d) persistent preoccupation with parts of objects

B.   Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:

(1) social interaction,

(2) language as used in social communication, or

(3) symbolic or imaginative play.

C.   The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

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Other Concerns Regarding Speech, Communication and Children with Autism:

It is always useful for parents and professionals to also ask the question, "Could something else be going on that could account for the lack of speech or communication skills?" According to Dr. Barry Prizant, there is increasing evidence that a lack of speech or gestures in a subset of children with autism may be related to issues other than social-cognitive abilities [Prizant, 1996]. One area that should be investigated includes general motor or specific motor speech impairments involving motor planning. This would include limb apraxia or oral/verbal apraxias. Because research on typically developing children has found a correlation between speech and language development and cognitive skills it is often presumed that the reason a child with autism does not speak is related to cognitive or receptive language ability. Prizant argues that clinical evidence suggests that motor speech impairments can be a significant factor inhibiting the development of speech in some children with autism. For instance:

1. Some children are able to acquire the ability to meaningfully communicate via nonspeech symbolic alternative systems such as communication devices and sign language despite the fact that their speech production may be severely limited. This fact may demonstrate adequate cognitive and linguistic skills.

2. Some children demonstrate the classic symptoms of oral motor problems such as difficulty in coordinating movement of the articulators (lips, tongue, jaw, etc.), feeding difficulties, drooling past the age when most children are able to control saliva, and low facial muscle tone.

3. Symptoms that are consistent with a diagnosis of developmental apraxia of speech. These symptoms may include: use of primarily vowel-like vocalizations and limited consonant repertoire (consonants require greater motor-planning ability); intelligibility which decreases with length of utterance (single word and single syllable production may be more clear than extended utterances or multisyllabic words); differences in automatic versus volitional speech (echolalia may be more clearly articulated compared to spontaneous speech attempts) [Prizant, 1996].

Just as with other children who exhibit limited, absent or severely unclear speech, evaluation of the child with autism’s communication should include observation and comprehensive assessment, including assessment of the oral motor and speech motor systems. Dr. Michael Crary suggests a number of areas for clinical observation and evaluation, including:

1. Nonspeech motor functions: posture and gait, gross and fine movement coordination; oral movement coordination, mouth posture, drooling, swallowing, chewing, oral structures, symmetry, volitional vs. spontaneous movement

2. Speech motor functions: struggle and strain during speech attempts, visible groping of mouth, deviations in prosody (rate, volume, intonation, etc.), fluency of speech, hyper/hyponasality, speech diodochokinesis (alternative and sequential speed on consecutive trials. I.e. "puh-puh-puh", "puh-tuh-kuh" repetitively), volitional vs. spontaneous attempts.

3. Articulation and phonological performance: amount of verbal output, sound repertoire, reluctance to speak, interactive ability, intelligibility and type of errors, effects of performance load and increasing complexity; connected speech sampling; standardized test results.

4. Language performance: comprehension and expression, type of utterances, semantic and syntactic ability, effect of increased length of input, conversational abilities.

5. Other: ability to sustain and shift attention, reaction to speech, distractibility [Crary, 1993].

References:

Crary, Michael A. Developmental Motor Speech Disorders (Neurogenic Communication Disorders). San Diego, CA. Singular Publishing Group, 1993.

Prizant, Barry M. Brief report: Communication, Language, Social and Emotional Development. Journal of Autism and Developmental Disorders, Vol. 26, No. 2, 1996.

For more information on Developmental Apraxia of Speech:

• The Childhood Apraxia of Speech Association Website

(Our thanks to Sharon Gretz for contributing the information for this section! )

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List of Articles & Information on Assessment of Autistic Children for Metabolic Disorders:

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