‘Love makes me feel good inside and my heart is fixed’: What adults with intellectual disabilities have to say about love and relationships

Background: Adults with intellectual disabilities have historically been hindered, rather than supported, in their desire to form loving relationships. This paper sought to explore with them what kinds of support they wanted in the 21st Century.Method: Semi-structured in-depth interviews were conducted with 40 adults with intellectual disabilities in the UK.Results: Participants placed a high value on having a partner and being supported to maintain and develop a loving relationship. The factors which constrained them in achieving this included a lack of social opportunities, barriers created by social care services and limits on them exercising autonomy. Facilitating factors included access to specialist dating agencies, strong family and staff support and opportunities to learn about relationships.Conclusions: The importance of a loving relationship as a source of pleasure and meaning in the lives of adults with intellectual disabilities who are often disadvantaged in many other spheres of life is emphasised

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Newborn screening for biotinidase deficiency has identified children with profound biotinidase deficiency (C, which substitutes a histidine for aspartic acid444 (D444H) in one allele of the biotinidase gene. We have previously estimated that the D444H mutation results in 48% of normal enzyme activity for that allele and occurs with an estimated frequency of 0.039 in the general population. The D444H mutation in biotinidase deficiency is similar to the Duarte variant in galactosemia. The D444H mutation in one allele in combination with a mutation for profound deficiency in the other allele is the common cause of partial biotinidase deficiency