Bosch-Boonstra-Schaaf optic atrophy syndrome & Speech and Language Impairment

*Speech and Language Impairment is one of the most common clinical features of BBSOAS. Overall, 91% of those diagnosed have a speech delay with 42% of those being preverbal.

*The Phenotypic Expansion of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Further Evidence for Genotype-Phenotype Correlations (2020)

*Speech is how we say sounds and words. People with speech problems may:

  • not say sounds clearly
  • have a hoarse or raspy voice
  • repeat sounds or pause when speaking, called stuttering

*Language is the words we use to share ideas and get what we want. A person with a language disorder may have problems:

  • understanding
  • talking
  • reading
  • writing

*Types of Speech & Language Disorders

  • Apraxia of Speech: A severe speech disorder characterized by an inability to speak, or a severe struggle to speak clearly.
  • Expressive Language Disorder: People with expressive language disorder have difficulty conveying or expressing information in speech, writing,sign language or gesture.
  • Receptive Language Disorder: A receptive language disorder is a condition in which a person has trouble understanding and processing words.
  • Other Common Speech and Language Disorders: Stuttering (stammering), Dysarthria (slurred speech), Lisping, Spasmodic Dysphonia (causes the voice to break or sound strained), Muteness and Selective Mutism

*Some early signs and symptoms of childhood Apraxia:

  • Limited babbling, or variation within babbling
  • Limited phonetic diversity
  • Inconsistent errors
  • Omissions, particularly in word initial syllable shapes
  • Vowel errors/distortions
  • Excessive, equal stress
  • Loss of previously produced words

*Some common expressive language disorder symptoms:

  • Making grammatical errors
  • Using noticeably fewer words and sentences
  • Using shorter, simpler sentence construction
  • Having a limited vocabulary
  • Frequently having trouble finding the right word
  • Using non-specific vocabulary
  • Using the wrong words in sentences
  • Relying on standard phrases

*Children with a receptive language disorder may:

  • Develop language slowly
  • Rarely be interested when people are talking
  • Have trouble following directions
  • Often misunderstand what was asked or said
  • Have a limited vocabulary and have trouble learning new words
  • Be able hear or see words but have trouble understanding their meaning

*American Speech-Language-Hearing Association

*Early intervention and continued speech therapy is the best treatment for speech and language disorders.

*Intermountain Healthcare