The rare disease is a severe and infrequent pathology, of an estimated 80% genetic origin, manifesting intellectual disability and a chronic condition. The Angelman Syndrome is a severe pathology which affects neurodevelopment in 1:10000/40000 of newborns, and it is caused by the loss or absence of expression of maternal genes in the 15q11-q13 region. Physical and behavioural phenotypes stand out, characterized by severe to profound intellectual disability, lack of speech, happy demeanour, frequent laughter, easy excitable personality, hyperactivity, fascination with water, among others. The severe to profound disability is associated with other psychopathological conditions and neurodevelopment, of the patient during his lifetime, as well as reduced verbalization which interferes in the individual’s social experience thus affecting his quality of life. Accordingly, the objective of this study is to learn the cognitive and behavioural phenotype in Spanish citizens with the Angelman Syndrome in the realms of adaptive behaviour, cognitive development age, and language, communication, and behavioural problems. There has been an increase in the frequency of diagnostics during the recent years, and there has also been an increased clinical awareness on the condition. The sample group consists of 25 subjects of both sexes, in the ages of 3 to 57, diagnosed with the Angelman Syndrome. The evaluation instruments are Bayley Scales of infant and toodler development –third edition, Inventory for Client and Agency Planning –ICAP, MacArthur Communicative Development Inventory and Early Social Communication Scales –ESCS. The results are descriptive functioning in all the domains explored by the sample. The fulfilment of five hypotheses is also shown. The first hypothesis shows an adaptive behaviour conduct with improvement in motor skills in relation to previous studies; and likewise, significant differences by molecular subtype and age groups. In the equivalent cognitive development age, are found significant differences by molecular subtype. The second and third hypotheses show a profile for communication and language, the equivalent age in receptive and expressive communication, with significant differences between both levels, with the oral level inferior to 24 months and with differences by molecular subtype. The Word count in expressive and comprehensive vocabulary is shown, highlighting the non –verbal component made up of gestures and actions. The exploration through the ESCS for form and non-verbal function shows a joint profile in joint attention, requesting and social interaction, with a certain degree of similarity with the Autism Spectrum Disorder. Significant differences were found for molecular subtype, sex and age group in the three explored functions, although these differences are not observed in all the components by function (initiation and response, low and high levels of joint attention, request and social interaction.) The fourth hypothesis shows a profile of maladaptive behaviour with a higher frequency and severity in disruptive behaviour, atypical and unusual habits, withdrawn and hurtful to others. No significant differences were observed by molecular subtype, sex nor age group; although adolescents show a profile which corresponds with the vital cycle. The fifth and sixth hypotheses shows the relation between the explored variables, where receptive and expressive communication, is related to behavioural problems. _x000D_ It is concluded that the profile of adaptive behaviour, follows a dynamic and characteristics of the vital cycle, the chronological instrumental percentiles, do not sufficiently estimate the evolutionary changes. The absence of speech is the most consistent phenotype for all the pathogenic variables, thus consolidating a non-verbal profile characteristically related to the equivalent cognitive development. Adolescents manifest an optimization of skills. By deletion, the group manifests a more severe phenotype in all the explored variables.
| Date of Award | 13 Dec 2022 |
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| Original language | Spanish |
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| Supervisor | Albert Fornieles Deu (Director) & Carme Brun-Gasca (Director) |
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