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:
*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.