Gratification Disorder as an Early Marker of Rett Syndrome: Two Pediatric Case Reports

Abstract

Gratification disorder (GD) is a form of stereotyped posturing with mechanical pressure applied to the genitalia without manual manipulation and is generally considered benign. Here, we describe two patients who exhibited GD. Both were later diagnosed with Rett syndrome via genetic sequencing. In both patients, GD preceded the onset of the hallmark hand stereotypies of Rett syndrome. We therefore conclude that GD is not as benign as previously assumed and in fact can be an early sign of Rett syndrome. Further studies are needed to evaluate the prevalence of GD in Rett girls with the MECP2 genotype.

Keywords

gratification disorder - Rett's syndrome - MECP2 gene

Publication History

Received: 29 May 2020

Accepted: 09 August 2020

Article published online:
23 September 2020

• References

• 1 Leung AK, Robson WL. Childhood masturbation. Clin Pediatr (Phila) 1993; 32 (04) 238-241
• 2 Meizner I. Sonographic observation of in utero fetal “masturbation”. J Ultrasound Med 1987; 6 (02) 111-111
• 3 Giorgi G, Siccardi M. Ultrasonographic observation of a female fetus' sexual behavior in utero. Am J Obstet Gynecol 1996; 175 (3 Pt 1): 753
• 4 Friedrich WN, Grambsch P, Broughton D, Kuiper J, Beilke RL. Normative sexual behavior in children. Pediatrics 1991; 88 (03) 456-464
• 5 Nechay A, Ross LM, Stephenson JB, O'Regan M. Gratification disorder (“infantile masturbation”): a review. Arch Dis Child 2004; 89 (03) 225-226
• 6 Pandurangi A, Pandurangi S, Mangalwedhe S, Mahadevaiah M. Gratification behavior in a young child: course and management. Journal of the Scientific Society. 2016; 43: 48-50
• 7 Rödöö P, Hellberg D. Girls who masturbate in early infancy: diagnostics, natural course and a long-term follow-up. Acta Paediatr 2013; 102 (07) 762-766
• 8 Jan MM, Al Banji MH, Fallatah BA. Long-term outcome of infantile gratification phenomena. Can J Neurol Sci 2013; 40 (03) 416-419
• 9 Percy AK. Rett syndrome. Current status and new vistas. Neurol Clin 2002; 20 (04) 1125-1141
• 10 Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006; 16 (03) 276-281
• 11 Nomura Y, Segawa M. Natural history of Rett syndrome. J Child Neurol 2005; 20 (09) 764-768
• 12 Einspieler C, Kerr AM, Prechtl HFR. Is the early development of girls with Rett disorder really normal?. Pediatr Res 2005; 57 (5 Pt 1): 696-700
• 13 Goldman S, Temudo T. Hand stereotypies distinguish Rett syndrome from autism disorder. Mov Disord 2012; 27 (08) 1060-1062
• 14 Ferreira MG, Teive HAG. Hand stereotypies in rett syndrome. Pediatr Neurol Briefs 2020; 34: 2
• 15 Temudo T, Oliveira P, Santos M. et al. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology 2007; 68 (15) 1183-1187
• 16 Krajnc N. Management of epilepsy in patients with Rett syndrome: perspectives and considerations. Ther Clin Risk Manag 2015; 11: 925-932
• 17 Humphreys P, Barrowman N. The incidence and evolution of Parkinsonian rigidity in Rett syndrome: a pilot study. Can J Neurol Sci 2016; 43 (04) 567-573
• 18 Julu PO, Engerström IW, Hansen S. et al. Cardiorespiratory challenges in Rett's syndrome. Lancet 2008; 371 (9629): 1981-1983
• 19 Singh J, Santosh P. Key issues in Rett syndrome: emotional, behavioural and autonomic dysregulation (EBAD) - a target for clinical trials. Orphanet J Rare Dis 2018; 13 (01) 128
• 20 Humphreys P, Barrowman N. The incidence and evolution of Parkinsonian rigidity in Rett Syndrome: A Pilot Study. Can J Neurol Sci 2016; 43 (04) 567-573
• 21 Stahlhut M, Downs J, Aadahl M, Leonard H, Bisgaard AM, Nordmark E. Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome. Disabil Rehabil 2019; 41 (02) 133-141