Late phonological development in Williams syndrome.

Area of Science:

• Linguistics
• Genetics
• Neurodevelopmental Disorders

Background:

• Williams syndrome (WS) is a genetic disorder with distinct neurodevelopmental and cognitive profiles.
• Phonological development in WS is under-researched, with existing studies suggesting atypical patterns.
• Language abilities, particularly phonology, are often considered a relative strength in WS, contrasting with pragmatic language challenges.

Purpose of the Study:

• To investigate late phonological development in Spanish-speaking individuals with Williams syndrome across different age groups (children, adolescents, young adults).
• To analyze the frequency and types of phonological processes in spontaneous speech.
• To compare phonological profiles of individuals with WS to typically developing (TD) children at different developmental stages.

Main Methods:

• Analysis of five classes of phonological processes (Syllable Structure, Substitution, Omission, Assimilation, Addition) in spontaneous speech.
• Comparison of phonological profiles of 7 children (3-8 years) and 7 adolescents/young adults (14-25 years) with WS.
• Comparison with normative data from TD children aged 3 and 5 years.

Main Results:

• Children with WS showed phonological process frequencies similar to 3-year-old TD children (expansion stage).
• Older individuals with WS had frequencies similar to 5-year-old TD children (resolution stage), but processes were persistent and age-independent.
• Atypical trajectories, individual differences, and a tendency for Omission (final consonant deletion) were observed in WS across all ages.

Conclusions:

• Phonological development in Williams syndrome is complex and asynchronous, not simply delayed or protracted.
• Persistent phonological processes, especially Omission, may be characteristic of WS.
• Lifelong phonological assessment and intervention are crucial for individuals with Williams syndrome.