Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Costanza Cutrona

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Autori

MARIKA PANE (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
GIULIA STANCA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
CHIARA TICCI (3. METABOLIC AND MUSCULAR UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – NEUROPSICHIATRA INFANTILE)
COSTANZA CUTRONA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
ROBERTO DE SANCTIS (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
MATTEO PIRINU (4. REHABILITATION UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – FISIOTERAPISTA)
GIORGIA CORATTI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
CONCETTA PALERMO (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
BEATRICE BERTI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
DANIELA LEONE (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
MICHELE SACCHINI (3. METABOLIC AND MUSCULAR UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – PEDIATRA)
MARGHERITA CERBONESCHI (4. REHABILITATION UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – FISIOTERAPISTA)
LAVINIA FANELLI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
GIULIA NORCIA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
NICOLA FORCINA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – TERAPISTA DELLA NEUROPSICOMOTRICITÀ DELL’ETÀ EVOLUTIVA )
ANNA CAPASSO (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
GIANPAOLO CICALA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
LAURA ANTONACI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
MARTINA RICCI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
MARIA CARMELA PERA (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)
CHIARA BRAVETTI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – INFERMIERA DI RICERCA)
MARIA ALICE DONATI (3. METABOLIC AND MUSCULAR UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – PEDIATRA)
ELENA PROCOPIO (3. METABOLIC AND MUSCULAR UNIT, MEYER CHILDREN’S HOSPITAL, FLORENCE, ITALY. – PEDIATRA)
EMANUELA ABIUSI (5. DEPARTMENT OF LIFE SCIENCES AND PUBLIC HEALTH, SECTION OF GENOMIC MEDICINE, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – GENETISTA)
ALESSANDRO VAISFELD (5. DEPARTMENT OF LIFE SCIENCES AND PUBLIC HEALTH, SECTION OF GENOMIC MEDICINE, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – GENETISTA)
ROBERTA ONESIMO (6. DEPARTMENT OF PEDIATRICS, FONDAZIONE POLICLINICO UNIVERSITARIO “A. GEMELLI” IRCCS, ROME, ITALY. – PEDIATRA)
FRANCESCO DANILO TIZIANO (5. DEPARTMENT OF LIFE SCIENCES AND PUBLIC HEALTH, SECTION OF GENOMIC MEDICINE, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – GENETISTA)
EUGENIO MERCURI (1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. – NEUROPSICHIATRA INFANTILE)

Presentatore

COSTANZA CUTRONA ( 1. CENTRO PEDIATRICO NEMO AND PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY. 2. PEDIATRIC NEUROLOGY UNIT, FONDAZIONE POLICLINICO “A. GEMELLI” IRCCS – UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY.)

Modalità

Oral Communication

Abstract

Background: Neonatal screening for SMA has allowed the identification of infants who may present with a broad spectrum of early clinical signs.
Purpose: Our aim was to establish whether the presence and the severity of early clinical signs has an effect on the development of motor milestones.
Methods: Infants identified through Newborn Screening were prospectively assessed using a structured neonatal neurological examination and an additional module for the assessment of floppy infants. At follow-up, all infants were assessed using the HINE 2 to establish developmental milestones.
Results: The cohort includes 18 infant: 9 with 2 SMN2 copies, 3 with 3 copies, 4 with 4 copies and 2 with more than 4 copies. Fourteen of the 18 patients were treated soon after diagnosis, while the remaining 4, all with SMN2>4 copies, did not received any treatment. Normal early neurological examination (n=11) was associated with independent walking before the age of 18 months while infants with early clinical signs of SMA (n=4) did not achieve ambulation . Paucisymptomatic patients (n=3) achieved ambulation, one before the age of 18 months and the other 2 between 22 and 24 months.
Conclusions: our findings suggest that early clinical signs may contribute to predict motor milestones development. Moreover, although the limited size of our cohort, the combination of clinical presentation and genotype at SMN locus may better predict the possibility to achieve milestones and the time when are achieved than each of them individually.