Carla Maria Carmona, PhD

Integrated PhD researcher

orcid.org/0000-0001-7401-4016

Academic degrees:

1980-1985 - Degree in Psychology. Faculty of Psychology and Educational Sciences of the University of Porto.

1990 to 1994 - MSc in Developmental Psychology and Child Education, with a thesis entitled “Phenylketonuria and self-control: exploratory studies”. Faculty of Psychology and Educational Sciences of the University of Porto. Supervisor - Professor Anne Marie Fontaine.

2000 to 2005 – PhD in Clinical Psychology, with a thesis entitled “Classical Phenylketonuria: psychological aspects while dealing with a chronic illness”. School of Psychology of the University of Minho. Supervisor - Professor Carlos Silva Fernandes.

Positions:

• Since 1986, Clinical Psychologist.  Assessor of Clinical Psychology, at Center of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto (CHP) – EPE.

Research interests:

• Rare genetic diseases
• Mental disorders
• Cognitive, neuropsychological and socio-affective assessment of children, adolescents and adults.
• Studies on quality of life.
• Follow-up and therapeutic interventions on the field of clinical psychology.
• In the context of chronic diseases, hereditary metabolic diseases arise as a special area of interest because they enable the prevention of clinical symptoms, through a follow-up by a specialized multidisciplinary clinical team (metabolism, nutrition and Clinical Psychology). In this area, this Centre has been a pioneer in research and scientific production results on the follow-up of these patients, collaborating with treatment centres at national and international level.
• From the creation of databases with the results of the follow-up of the patients since the first years of life we have been able to study and establish correlations between several variables, and thus to emphasize the importance of a multidisciplinary teem in the follow-up of these patients, proposing new interventions and optimising the quality of the services provided with obvious gains in public health.

Research area keywords:

Rare genetic diseases, Mental disorders,Developmental follow-up, Neurocognitive evaluations, Quality of life, Selection and adaptation of assessment tools

Ongoing projects:

EUROPEAN REGISTER OF ADULT USE, PEDIATRIC AND MATERNAL OF KUVAN ®-KAMPER ". Protocol: EMR-700773-001. Adult Maternal Pediatric Registry of KUVAN®. Protocol:  EMR-700773-001. Principal Investigator: Esmeralda Martins, PhD (CHP)

Neurocognitive development modulators in phenylketonuric patients: the importance of biopsychosocial factors in determining the phenotype. Ref. 016-15 (016-DEFI/016-CES). Principal Investigator: Carla Maria Carmona.

Prizes, honors, awards:

2004 - Phenylketonuria (PKU):Follow-up at early diagnosis consultation of Center of Medical Genetics. “XVI Maria Pia Children's Hospital meeting: from child to young adulthood”.

2013 - GCC Prize for the Best Poster in 5th Initiation Journeys of Clinical Research with the poster entitled “Neurocognitive development of 99 adolescents and adults with Phenylketonuria: Arising Health Gains of a Multidisciplinary Approach ". CGC Genetics. Jully, 2013.

2016 - Member of the National Reference Center (Centro Hospitalar do Porto) for the Treatment of the Inherited Metabolic Diseases. March, 2016.

2016 - Prize Sollari Allegro 2016. First Prize. Teaching, Training and Research Activities: Center of Medical Genetics Dr. Jacinto de Magalhães. Department of Teaching, Training and Research of the Centro Hospitalar do Porto, Portugal. October, 2016.

2016 - Member of the reference Center (Centro Hospitalar do Porto) included in the European Reference Network for the Treatment of Inherited Metabolic Diseases. November, 2016.

2017 - Prize for the Best Poster in the XLVI Genetics Conference Dr. Jacinto Magalhães on the theme "Pediatric Neurogenetics” with the poster entitled “New insights into XLOS phenotype: the clinical, neurocognitive and behavioral features of 4 patients followed at CGM/CHP”. February, 2017.