Neurodevelopmental Profile in Children Affected by Ocular Albinism

Jessica Galli; Erika Loi; Alessandra Morandi; Vera Scaglioni; Andrea Rossi; Anna Molinaro; Nadia Pasini; Francesco Semeraro; Giulio Ruberto; Elisa Fazzi

doi:10.1055/s-0041-1732430

Neuropediatrics, Table of Contents

Neuropediatrics 2022; 53(01): 007-014
DOI: 10.1055/s-0041-1732430

Original Article

Neurodevelopmental Profile in Children Affected by Ocular Albinism

Jessica Galli

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

,

Erika Loi

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

³Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

,

Alessandra Morandi

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

,

Vera Scaglioni

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

,

Andrea Rossi

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

,

Anna Molinaro

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

,

Nadia Pasini

⁴Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia, Eye Clinic, Brescia, Italy

,

Francesco Semeraro

⁵Department of Neurological and Vision Sciences, ASST Spedali Civili of Brescia and University of Brescia, Eye Clinic, Brescia, Italy

,

Giulio Ruberto

⁶Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, Univeristy of Pavia, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy

,

Elisa Fazzi

¹Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy

²Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy

› Author Affiliations

Abstract

Aim The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis.

Design The design of the study involves a retrospective longitudinal observational case series.

Methods We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well.

Results Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype.

Conclusion Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation.

Keywords

ocular albinism - neurodevelopmental profile - autism spectrum disorder - GPR143 gene mutations

Full Text

References

References
1 Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM. The phenotypic spectrum of albinism. Ophthalmology 2018; 125 (12) 1953-1960
2 Schnur RE, Gao M, Wick PA. et al. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 1998; 62 (04) 800-809
3 Schiaffino MV, Bassi MT, Galli L. et al. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 1995; 4 (12) 2319-2325
4 Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. GPR143 gene mutation analysis in pediatric patients with albinism. Ophthalmic Genet 2012; 33 (03) 167-170
5 Oetting WS. New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene. Hum Mutat 2002; 19 (02) 85-92
6 Shen B, Samaraweera P, Rosenberg B, Orlow SJ. Ocular albinism type 1: more than meets the eye. Pigment Cell Res 2001; 14 (04) 243-248
7 Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Genetic variants associated with Hermansky-Pudlak syndrome. Platelets 2020; 31 (04) 544-547
8 Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V. Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis 2014; 9 (01) 132
9 Kutzbach BR, Summers CG, Holleschau AM, MacDonald JT. Neurodevelopment in children with albinism. Ophthalmology 2008; 115 (10) 1805-1808 , 1808.e1–1808.e2
10 Delong R. GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features, with or without oculocutaneous albinism. Autism 2007; 11 (02) 135-147
11 Hesapcioglu ST. Oculocutaneous albinism and autism: A case report and review of literature. Dusunen Adam: Journal of Psychiatry & Neurological Sciences 2013; 26 (02) 215
12 Fazzi E, Signorini SG, LA Piana R. et al. Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects. Dev Med Child Neurol 2012; 54 (08) 730-736
13 Griffiths R. The Griffiths Mental Development Scales from Birth to 2 Years, Manual. The 1996 Revision Huntley: Association for Research in Infant and Child Development.
14 Wechsler D. WPPSI: Technical and Interpretative Manual. San Antonio, TX: The Psychological Corporation; 2002
15 Marini A, Marotta L, Bulgheroni S, Fabbro F. Batteria per la valutazione del linguaggio in bambini dai 4 ai 12 anni. Giunti: Firenze, OS; 2015
16 Levorato MC, Roch M. TOR 3–8. Valutare La Comprensione Del Testo Orale. Firenze: Giunti O.S. Organizzazioni Speciali; 2007
17 Sparrow SS, Cicchetti DV, Balla DA. Vineland Adaptive Behavior Scales-II—2nd ed. Survey Interview. Firenze: Giunti Psychometrics; 2016
18 Mayes S. Checklist for Autism Spectrum Disorder. Wood Dale, IL: Stoelting; 2012
19 Lord C, Rutter M, DiLavore P, Risi S, Gotham K, Bishop SL. Autism Diagnostic Observation Schedule. 2nd ed.. Torrence, CA: Western Psychological Services; 2012
20 Campbell P, Ellingford JM, Parry NRA. et al. Clinical and genetic variability in children with partial albinism. Sci Rep 2019; 9 (01) 16576
21 Louwagie CR, Jensen AA, Christoff A, Holleschau AM, King RA, Summers CG. Correlation of grating acuity with letter recognition acuity in children with albinism. J AAPOS 2006; 10 (02) 168-172
22 Karlén E, Milestad L, Pansell T. Accommodation and near visual function in children with albinism. Acta Ophthalmol 2019; 97 (06) 608-615
23 Salomão SR, Ventura DF. Large sample population age norms for visual acuities obtained with Vistech-Teller Acuity Cards. Invest Ophthalmol Vis Sci 1995; 36 (03) 657-670
24 Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol 2003; 87 (06) 767-772
25 Ather S, Proudlock FA, Welton T. et al. Aberrant visual pathway development in albinism: from retina to cortex. Hum Brain Mapp 2019; 40 (03) 777-788
26 Elisa F, Josée L, Oreste FG. et al. Gross motor development and reach on sound as critical tools for the development of the blind child. Brain Dev 2002; 24 (05) 269-275
27 Cole GF, Conn P, Jones RB, Wallace J, Moore VR. Cognitive functioning in albino children. Dev Med Child Neurol 1987; 29 (05) 659-665
28 Fulcher T, O'Keefe M, Bowell R. et al. Intellectual and educational attainment in albinism. J Pediatr Ophthalmol Strabismus 1995; 32 (06) 368-372
29 Mosca R, Kritzinger A, van der Linde J. Language and communication development in preschool children with visual impairment: asystematic review. S Afr J Commun Disord 2015; 62 (01) e1-e10
30 Del Cole CG, Caetano SC, Ribeiro W, Kümmer AMEE, Jackowski AP. Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. Child Adolesc Psychiatry Ment Health 2017; 11: 40
31 Powell TW, Germani MJ. Linguistic, intellectual, and adaptive behavior skills in a sample of children with communication disorders. J Psychoeduc Assess 1993; 11: 158-172
32 Fazzi E, Micheletti S, Galli J, Rossi A, Gitti F, Molinaro A. Autism in children with cerebral and peripheral visual impairment: fact or artifact?. Semin Pediatr Neurol 2019; 31: 57-67
33 Kutzbach B, Summers CG, Holleschau AM, King RA, MacDonald JT. The prevalence of attention-deficit/hyperactivity disorder among persons with albinism. J Child Neurol 2007; 22 (12) 1342-1347
34 Ünsel Bolat G. Case report: diagnosis and treatment of attention deficit hyperactivity disorder and autism spectrum disorder in patients diagnosed with oculocutaneous albinism. Neurocase 2020; 26 (06) 360-363

Supplementary Material

Supplementary Material