Characteristics of Idiopathic Familial Speech Disorders
Characteristics of Idiopathic Familial Speech Disorders
According to studies, speech disorders with unknown causes (idiopathic) affect approximately
 5% of the population at some point in their life. Some of these disorders like, stuttering
 and cluttering, are known for being detected early, during speech development.

 Stuttering is characterized by sound and syllable repetitions and consonant/vowel
 prolongations. When stuttering is moderate to severe, it can interfere with a person's job
 and social activities.

 Speech articulation disorders are characterized by omissions, or substitutions of speech
 sounds. The speech of a person who clutters is often difficult to understand. People are
 often unaware of the errors they make when speaking causing treatment of the condition to be
 very difficult.

 The purpose of this research is to study an extended family whose members exhibit a pure form
 of speech articulation disorders

 In addition, the study will use data and information gathered from the study and use it to
 develop guidelines (criteria) for defining and differentiating patients with speech
 disorders.
Objective:

 Our objective is to determine which factors are involved in the development of stuttering and
 familial phonological processing disorder and are associated with a familial pattern of
 inheritance.

 Study population: The study population is comprised of 8 groups:

 1. Children and adults with persistent developmental stuttering;

 2. Unaffected siblings of the individuals affected with developmental stuttering or
 recovered from stuttering

 3. Children and adults who have recovered from developmental stuttering;

 4. Children and adults with persistent familial phonological processing disorders (FPPD);

 5. Unaffected siblings of the individuals affected with FPPD or have recovered from FPPD

 6. Children and adults who have recovered from FPPD;

 7. Unaffected siblings of the individuals who have recovered from FPPD;

 8. Children and adults with normal speech and language development who will comprise the
 control groups.

 Design: A Natural history design will be used to compare affected and unaffected family
 members with healthy volunteers with normal speech and language.

 Outcome Measures: Genetic markers and pedigree analyses will be used to test familial
 inheritance patterns. Speech and language development will be compared using indices of
 speech perception, auditory perception, self monitoring of one's own speech, language
 complexity, motor complexity, speech learning, phonological processing and verbal/nonverbal
 memory.
-INCLUSION CRITERIA:

 i. Normal Language Development, Hearing and Cognition

 ii. The following screening tests previously published with norms were found to have a good
 distribution for determining normal functioning in adolescents and adults as all subjects
 did not hit ceiling and all had scores greater than or equal to the 80th percentile. These
 tests are being used to ensure that subjects affected with stuttering or FPPD do not have
 other disorders such as hearing loss, language delay, or mental retardation.

 Peabody Picture Vocabulary Test III (PPVT-III)

 Expressive Vocabulary Test (EVT)

 Oral Speech Mechanism Screening Examination

 Revised Token Test; Token test for Children

 Test of Non verbal intelligence (TONI-2)

 Digit Span subtest of the WICS-R

 Audiometric Screening

 Goldman Fristoe Test of Articulation

 WUG Test of Morphological Encoding

 Test of Auditory Comprehension of Language (TACL)

 Khan-Lewis Phonological Analysis

 INCLUSION CRITERIA FOR IDENTIFYING AND QUANTIFYING STUTTERING:

 The Stuttering Severity Index -3 (Riley, 1981) has been found to be accurate for
 identifying and assessing the severity of stuttering during conversational speech. For the
 inclusion of a stuttering subject we require:

 i. A total overall score of 11 or greater between 3 and 17 years,

 ii. A total overall score of 18 or greater from age 18 and above.

 INCLUSION CRITERIA FOR IDENTIFYING FPPD:

 i. A family history of an autosomal dominant pattern of inheritance of the speech disorder
 over several generations with persistence into adulthood in some cases,

 ii. Speech symptoms during conversational speech include: deletion of final consonants;
 syllable reduction and syllable deletion; deletion of grammatical markers such as copulas,
 auxiliaries, prepositions, connectives; poor ability to self-correct; poor awareness of
 errors; and consonant cluster reduction.

 iii. Greater than 9% discourse errors during analysis of a sample of 300 syllables.

 iv. A discrepancy of 30 points (1 and 1/2 Standard Deviations) between receptive (the
 higher score) and expressive percentile score on the PPVT III and Expressive Vocabulary
 Test.

 v. For subjects greater than 7 years of age, a phonological process rating of 3 or more for
 any phonological process on the Khan-Lewis Phonological Analysis. For subjects less than 7
 years of age, a phonological process rating of 3 or more on 2 phonological processes on the
 Khan-Lewis Phonological Analysis. Finally, any subjects with a non developmental
 phonological process error will be identified as potentially having FPPD.

 EXCLUSION CRITERIA:

 i. Anyone with a hearing loss will be excluded from participation during the diagnostic
 testing.

 ii. Children with delayed language, more than 1 year delay from norms on receptive and
 expression language testing will be excluded.

 iii. Language impairment: scores more than 2 standard deviations below the age appropriate
 score on the standardized language tests listed under the inclusion criteria.

 iv. Cognitive impairment: scores more than 2 standard deviations below the age appropriate
 score on the standardized cognitive tests listed under the inclusion criteria.

 v. Bilingual non-native English speakers - Studies have demonstrated that brain
 organization for speech and language may differ in bilingual persons. It is hypothesized
 that this may alter speech motor learning and thus kinematic data from non-native English
 speakers would differ from native English speakers. Therefore, only native-American English
 speakers, with only one language spoken in the home, will be included.