Patient case (clinical description): A 3-year-old girl is brought to the clinic by her parents for assessment of her short stature. Physical examination reveals short limbs and a relatively large head. She has a flat nasal bridge and a small midface. The girl's father exhibits similar physical features; however, her mother looks normal. The genetic testing reveals an autosomal dominant point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene consistent with achondroplasia in both father and the child. The girl has not received any treatment yet, and it is her first visit after immigration to the US. The other mental and developmental examinations are unremarkable.

Patient's own account: I just brought my little 3-year-old girl to the clinic to have her checked up by the doctor. I was worried sick because she was smaller than her classmates. The lovely doctor performed a physical exam and she told me that she has short limbs and a larger head. My girl also has a flat nasal bridge and a small midface. My baby just has the face of her father, unlike me! They performed some genetic testing on my child and my husband and found out that both my husband and her have a mutation of the FGFR3 gene, which led the doctor to diagnose them with dwarfism. My baby never received any treatment and it was our first visit to the doctor since we arrived in the US. The other tests regarding her mental and physical development were perfectly fine.

Clinical trial: Parent-based Intervention for Language Delayed 2 to 3 Year Olds

Eligibility criteria:
Inclusion Criteria:

        Inclusion criteria (to diagnose primary language delay):

          -  The child is 24-36 months old

          -  The child has little or no expressive language (a vocabulary of 40 or less single
             words)

          -  The child has no known aetiology; the language delay is not secondary to sensory,
             structural, neurological or cognitive impairments

          -  The family have been assessed as having low socioeconomic status The study will use
             the Index of Multiple Deprivation (IMD) as a basis to determining a measure of
             deprivation. The IMD combines information from seven domains (income, employment,
             education, health, crime, housing and living environment) to produce an overall
             measure and it ranks how deprived areas are relative to others. This will be used to
             determine which areas and Children's Centres will be involved in the proposed RCT.
             However, as this is a geographical ranking, the RCT will include further refinement of
             eligibility of social disadvantage via assessment of individual measures of income
             deprivation, employment deprivation and education attainment. This information on
             employment and parent education levels will be collected via the case history taken at
             the initial assessment, as this is standard practice in a profile of risk for child
             language delay. The additional information on income will be taken at the first
             research assessment, as this does not form part of standard practice

        Exclusion Criteria:

          -  The child's expressive language consists of a vocabulary of more than 40 single words

          -  The child's language delay is secondary to sensory, structural, neurological or
             cognitive impairments

          -  English is not the first language for the family.

          -  Where English is not the first language, children would be excluded. Adjustments to
             the protocol and delivery of intervention would be required where English is an
             additional language (EAL) and there is a need to test the intervention first on an
             English-speaking population. If effective, a longer term programme plan would be to
             amend the programme and evaluate the effectiveness with EAL children.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 24 Months old.
Subject must be at most 36 Months

Eligibility (NLI label): Contradiction