Attention Deficit Disorder with Hyperactivity symptoms in early-treated phenylketonuria patients
Iranian Journal of Child Neurology,
Vol. 14 No. 1 (2020),
1 January 2020
,
Page 93-103
https://doi.org/10.22037/ijcn.v14i1.18021
Abstract
Objectives
To assess the presence of symptoms consistent with Attention Deficit Disorder with Hyperactivity (ADHD) in all patients with early-treated phenylketonuria (PKU) in the State ofSanta Catarina in southernBrazil.
Materials & Methods
All of the patients diagnosed with PKU by newborn-screening tests, with ages varying from 6 to 18 years and who started treatment before 60 days of life and presented phenylalanine levels consistently below 6 mg/dL throughout treatment, were included. The subjects were invited to complete a questionnaire that collected sociodemographic, gestational and clinical data. ADHD symptoms were assessed using the revision of the Swanson, Nolan and Pelham Questionnaire.
Results:
A total of 34 patients were evaluated, who were 53% male and 94% white and had an average age of 12 years, and 15% were born premature. According to the Swanson, Nolan and Pelham Questionnaire, 13 patients (38%) met the diagnostic criteria for ADHD, with 2 patients having the inattentive type, 6 patients having the hyperactive or impulsive type and 1 patient having the oppositional defiant disorder type.
Conclusion:
Although the patients with PKU were regularly treated from birth, there was a high prevalence of symptoms consistent with ADHD. A pathophysiological interface that involves the dopamine metabolic pathway may exist between the two conditions.
- phenylketonuria
- phenylalanine
- attention deficit disorder with hyperactivity
How to Cite
References
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. The Lancet. 2010;376(9750):1417-27.
da Silva LCS, Carvalho TS, da Silva FB, et al. Molecular characterization of phenylketonuria in South Brazil. Mol Genet Metab. 2003;79(1):17-24.
Burton BK, Leviton L. Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Mol Genet Metab. 2010;101(2):146-8.
Antshel KM. ADHD, learning, and academic performance in phenylketonuria. Mol Genet Metab. 2012;99(1)(suppl 1):S52-S8.
Diamond A. A model system for studying the role of dopamine in the prefrontal cortex during early development in humans: early and continuously treated phenylketonuria. In Nelson CA, Luciana M, eds. Handbook of Developmental Cognitive Neuroscience. 3th ed. Cambridge, MA: MIT Press; 2001:433.
Mira NVM, Marquez UML. Importância do diagnóstico e tratamento da fenilcetonúria. Rev Saúde Públ. 2000;34(1):86-96.
Gentile JK, Hoedt AET, Bosh AM. Psychosocialaspects of PKU: hiddendisabilities – a review. Mol Genet Metab. 2010;99(1)(Suppl 1):S64–S7.
Crossley LH, Anderson PJ. Función neuropsicológica en la fenilcetonuria tratada precozmente: Una revisión. Ann Nestlé. 2010;68(2):79–89.
Santos LL, Fonseca GC, Starling ALP, et al. Variations in genotype-phenotype correlations in phenylketonuria patients. Genet Mol Res. 2010;9(1):1-8.
Brosco JP, Sanders LM, Seider MI, Dunn AC. Adverse Medical Outcomes of Early Newborn Screening Programs for Phenylketonuria. Pediatrics. 2008;122(1):192-7.
Brasil. Ministério da Saúde. Secretaria de Atenção à Saúde. Protocolo clínico e diretrizes terapêuticas em fenilcetonúria. Portaria SAS/MS nº 712, 17 de dezembro de 2010. Web site: http://portal.saude.gov.br/portal/arquivos/pdf/pcdt_fenilcetonuria.pdf. Acessed Apr 17, 2013.
Mattos P, Serra-Pinheiro MA, Rohde LA, Pinto D. Apresentação de uma versão em português para uso no Brasil do instrumento MTA-SNAP-IV de avaliação de sintomas de transtorno do déficit de atenção/hiperatividade e sintomas de transtorno desafiador e de oposição. Rev psiquiatr Rio Gd Sul. 2006;28(3):290-7.
American Psychiatric Association. DSM-IV. Web site: http://www.psych.org. Accessed Jan 22, 2013.
Rohde LA, Barbosa G, Tramontina S, Polanczyk G. Transtorno de déficit de atenção/hiperatividade. Rev Bras Psiquiatr. 2000;22(3):7-11.
Collett BR, Ohan, JL, Myers K M. Ten-year review of rating scales. V: Scales assessing attention-deficit/hyperactivity disorder. J Am Acad Child Psy. 2003;42(9):1015-37.
Faraone SV, Perlis RH, Doyle AE, et al. Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiat. 2005;57(11):1313–23.
Feinstein AR. The pretherapeutic classification of comorbidity in chronic disease. J Chron Dis. 1970;23(7):455-68.
Lipton RB, Silberstein SD. Why study the comorbidity of migraine? Neurology. 1994;44(suppl 7):S4-S5.
Brown RT, Freeman WS, Perrin JM, et al. Prevalence and assessment of attention-deficit/hyperactivity disorder in primary care settings. Pediatrics. 2001;107(3):43-6.
Vasconcelos MM, Werner J, Malheiros AFA, et al. Prevalência de TDAH numa escola pública primária. Arq Neuro-psiquiatr. 2003;61(1):67-73.
Frazier TW, Youngstrom EA, Glutting JJ, Watkins MW. ADHD andachievement: meta-analysis of the child, adolescent, and adult literaturesand a concomitant study with college students. J Learn Disabil. 2007;40(1):49–65.
Arnold GL, Vladutiu CJ, Orlowski CC, Blakely EM, DeLuca J. Prevalence of stimulant use for attentional dysfunction in children with phenylketonuria. J Inherit Metab Dis. 2004;27(1):137–43.
Antshel KM, Waisbren SE. Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol. 2003;31(6):565–74.
Antshel KM, Waisbren SE. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. 2003;17(3):458–68.
Tannock R. Attention Deficit Hyperactivity Disorder: Advances in Cognitive, Neurobiological, and Genetic Research. J Child Psychol Psyc. 1998;39(1):65-99.
Brumm VL, Bilder B, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2009;99(1)(suppl):S59-S63.
Sharman R, Sullivan KA, Young RMcD, McGill JJ. Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey. J Inherited Met Dis. 2012. DOI 10.1007/s10545-010-9211-6. Accessed March 18, 2013.
- Abstract Viewed: 207 times