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Posture, spontaneous movements, and behavioural state organisation in infants affected by brain

malformations

Fabrizio Fermi”‘“, Heinz F.R. Prechtl”, Giovanni Cionib, M. Federica Roversi”, Christa Einspieler”, Claudia Gallo”,

Paola B. Paolicellib, Giovanni Battista Cavazzutia “Institute of Paediatrics and Neonatal Medicine, University of Modena, Modem, Ztuly

bStelZa Man’s Scientific Znstitute and INPE University of Piss, Piss, Italy ‘Institute of Physiology, University of Graz, Graz, Austria

Received 10 June 1997; accepted 27 August 1997

Abstract

Posture, quantity of spontaneous movement patterns, quality of general movements (GMs), and behavioural state organisation were studied in nine infants affected by documented brain malformations. A single 1 h video recording of five infants and two or more serial video recordings of another four infants were performed after birth. The graphic representation of single movement patterns (actogram) and of behavioural states of one video recording was performed in eight out of nine infants. The quality of GMs was assessed according to Prechtl’s method in all video recordings. All nine infants showed a less variable posture than normal newborn infants and an unusual resting posture was detected in seven infants. Poor behavioural state organisation without sleep cycles was common to the nine infants and excessive wakefulness was observed in six infants. As for the quantity of single movement patterns, six infants lacked one or two movement patterns normally present in healthy newborn infants. An abnormal quality of GMs was noted in all nine infants and distinct motor abnormalities were observed in single infants. A monotonous and sometimes stereotyped sequence of different body parts involved in the movement (i.e. poor repertoire GMs) was common to all infants. In the four infants of whom two or more video recordings were available, initial poor repertoire GMs were followed by a further deterioration in movement quality. No relationship was found between the quantity of defective brain tissue, lack of a specific part of the brain, type and severity of GM and posture abnormalities. 0 1997 Elsevier Science Ireland Ltd.

*Corresponding author. Tel.: + 39 59 422178; fax: + 39 59 424583; e-mail: [email protected]

0378-3782/97/$17.00 0 1997 Elsevier Science Ireland Ltd. All rights reserved. PZZ SO378-3782(97)00095-9

88 F. Ferrari et al. I Early Human Development 50 (1997) 87-11.3

Key~ods: Newborn infant; Brain malformation: Spontaneous movements; General movement quality; Posture; Behavioural states

1. Introduction

A number of studies on fetuses and newborn infants [ 1,3,4,9,11,17,19,22,24] have shown that spontaneous motor activity is affected by brain lesions or impairment. Of the whole motor repertoire, attention has been focused on a specific motor pattern i.e. general movements (GMs) which, when observed repeatedly, can be used as an early marker for brain dysfunction [16]. GMs are gross body movements involving head. trunk and limbs with variable amplitude, speed, and force: they can be recognised in fetal life from 9-10 weeks postmenstrual age (PMA) [7] onwards, and after birth the! continue to be present until 16-20 weeks post-term age [ 171.

In the case of brain damage a number of GM abnormalities have been recognised. namely poor repertoire of GMs, cramped-synchronised GMs and chaotic GMs 191 (for definitions see below). The most severe lesions (i.e. extensive cystic periventricular and/or subcortical leukomalacia, severe hypoxic-ischaemic encephalopathy ) are usually accompanied by the cramped-synchronized GM t:ype [4.9,19]. Less severe lesions, like germinal matrix/intraventricular haemorrhages (GMH-NH) and/or non-cystic leukomalacia, as well as localised periventricular leukomalacia with small cysts, are usually accompanied by poor repertoire GMs of variable duration [4,9,19]. Chaotic GMs are also observed transiently in Iarge GMH-IVHs and in anencephalic fetuses [9,24]. From previous findings it is evident that fetuses with major brain malformations will not produce GMs of normal quality.

Which are the motor abnormalities, if any, observed in infants affected by more 111 less severe brain malformations?

The present study examines posture, spontaneous movements and behavioural srate organisation in infants affected by distinct brain malformations.

The following questions are specifically addressed:

1. what is the repertoire of spontaneous movements and postures in a variety of brain malformations?

2. does the lack of specific parts of the brain specifically influence GM quality and posture?

3. is there a relationship between the quantity of defective brain tissue and the degrw of abnormality of GMs?

4. is the state organisation affected in infants with brain malformations?

2. Subjects

Posture, quantity of spontaneous movement patterns, quality of general movements, and behavioural state organisation were studied in 6 full-term and in 3 preteml infants selected on the basis of documented brain malformation. All the infants were born between 1985 and 1996 either in Modena or in Pisa. Parents gave their informed consent for the video recordings. Clinical data of the cases are provided in Table 1.

Table

1

Clin

ical

data

of

the

stud

y gr

oup

CaSe

Se

x and

ka

ryotvp

e

GA

Grow

th Pm

- an

d

pstna

taI

data

Neuro

logica

l

exam

inatio

n

PMA

38 w

:

neck

an

d m

mk

hype

rexten

sion,

exten

sor

hype

rtonia

of

the

limbs

, kn

ee

jerks

exag

gera

ted,

cons

isten

t

SpOt

ltanW

US

Babin

ski.

EBG

i-tmdin

gs

Gutco

me

Post-

mor

tem

brain

exam

inatio

n TP

I N.

1

38

1800

(<5)

Twin

pregn

ancy

(in

traute

rine

death

40

(<5)

of

the o

ther

fetus

), CS

, Ap

gar

scor

e:

7 at

1’, 9

at

5’, g

ood

dhica

l

CT (

30

d):

cond

itions

at

bii an

d du

ring

the

first

mon

ths

of life

awnc

qhdy

, ex

tensio

n

of bra

in tis

sue

and

CSF

throu

gh

a de

fect

in the

skull

ba

se

in the

reg

ion

of the

crib

riform

pla

te

and

c&a

galli

Dece

ased

at 4

m

(St.

epid.

seps

is)

Hypo

plasia

of

the

;a pa

&al

bone

s of

the

3 sk

ulk

mark

ed

2.

cere

bmm

hy

popla

sia;

2 a m

inim

al sh

rimp

of the

?

hemi

sphe

res;

thinn

ing

G

of the

cor

tex

of the

f:

cereb

ellum

, wh

ich

was

a

of no

rmal

size.

is

Fron

to-na

sal

4 en

ceph

aloce

le.

F s Ma

rked

asym

metr

ical

F;-

dilata

tion

of the

later

al P

ventr

icles

(L CR

) E 3 2

N. 2

Fe

male

46xX

de

K4)(p

15.1)

42

2240

(<5)

LateF

HRJJ

A~pg

arsw

e: 7a

t I’,

8

49 (

25)

at 5’;

fac

ial

dysm

orph

isms:

low-se

t

33.8

(25)

ears

with

bilate

ral

pream

icolar

asgu

s lis

tuIas

, Ink

mph

thslm

ia,

hype

rtelor

ism

and

epica

nthus

, lar

ge

rwt

of the

no

se,

small

m

outh,

micm

gnath

ia.

Apath

y s.,

sev

ere

hypo

tonia

and

mild

RD

S (1

st d)

;

mult

ifoca

l clo

nic,

gene

raliz&

ton

ic

and

atypic

al (or

al au

tomati

sm)

&ures

(4’

b-7’h

d).

PB f

rom

the

4’h

d; pe

rsis

tent

ge

neral

ized

hypo

tonia

and

apath

y s.

1 w:

retm

flexio

n of

the

head

, m

arked

gene

ralize

d

hypo

tonia,

apath

y s.

5 d:

oo

sleep

organ

izatio

n, low

volta

ge

EEG,

isolat

ed

par&

o-

occip

ital

EBG

disch

arges

, no

distin

ct EE

G pa

tterns

(no

TA,H

VS,LV

I)

CT (

1 d)

:

dilata

tion

of the

late

ral

ventr

icles

(L >

R),

large

su

barac

hnoid

haem

orrha

ge

Dece

ased

at 2

m

(poeu

ma-

nia)

Q

Tabl

e I

(con

tinue

d)

CW

Sex

and

GA

iirowt

b he

- an

d Ne

urolo

gical

EEG

Im

agin

g O

utco

me

Post

-mor

tem

WW

pe

posm

atal

data

ex

amina

tion

reco

rding

s re

sults

br

ain

exam

inatio

n

N.

3 Fe

mal

e

46,xX

41

2310

( <

5)

45.5

(

< 5)

32.5

(IO

)

Late

FH

RD,

CS,

resu

scita

tion

bag

and

mas

k,

Apga

r sc

ore:

4

at l

’, 7

at

5’.

Facia

l dy

smor

phism

: lo

w-se

t

em,

loose

sk

in at

the

back

of

th

e

neck

, po

sterio

r pa

late

cleft.

M

ultipl

e

mal

form

atio

ns:

pulm

onar

y ar

tery

steno

sis,

ostiu

m

prim

nm,

pate

nt

ducm

s m

terio

sns,

R

card

iac

vent

ricle

hype

rtmph

y,

hypo

plasia

of

the

R

kidne

y, hy

popla

sia

of

the

tbym

us.

card

io-re

spira

tory

dis

tress

,

hepa

tom

egaly

an

d oe

dem

a,

cyan

osis.

N. 4

M

ale

46,X

Y

17

2095

(5

)

46

(IOj

27.5

(C

S)

Out

bom

. Tw

in

preg

nanc

y: ba

g an

d

mas

k re

susc

itatio

n,

Apga

r sc

ore:

7

at

I’,

8 at

5’.

Tran

sfer

red

to N

ICU

at 2

!! hp

C~U%

Y cf

f?ck

! dy

$mor

pl%

m.

Labiu

m

palat

osch

isis.

pate

nt

ductu

s

arte

riosn

s. Hy

perth

erm

ia ep

isode

s,

stat

us

epile

pticu

s (o

ral-b

ucca

l

auto

mat

ism,

polyp

nea,

abno

rmal

eyes

m

ovem

ent,

myo

clonic

-tonic

fit

s

of

the

limbs

), re

curre

nt

pneu

mon

ia

from

bif

ib up

to

th

e 8’”

m

Id:

neck

an

d tru

nk

hype

rexte

nsion

,

flexo

r hy

perto

nia

of

the

limbs

5 m

: tru

nk

and

neck

by

poto

nia,

limb

hype

nonia

,

hypix

Gtk&

y

and

poor

vis

ual

resp

onse

s,

exag

gera

ted

knee

ierks

.

I, 2.

2.5

. 3,

5 m

:

pers

isten

t EE

G

asym

met

ry

(R <

L),

iwk

of

mam

rado

nai

teat

ures

(i.

e.

enco

ches

front

ales,

sleep

spind

les,

etc.

), no

norm

al EE

G

patte

rns.

abno

rmal

bilate

ral

fast

activ

ities

and

shar

p

wave

s es

pecia

lly

on

the

R he

mts

phe~

MRI

(1

5 d)

:

cotp

us

callo

sum

.

falx

cere

bri

and

mte

rhen

usph

eric

lissu

re

agen

esis.

Fuse

d th

alam

i. th

ird

vent

ricle

not

pres

em.

A cr

esce

nt-s

hape

d

holov

entric

le

surro

unds

fu

sed

thal

ami.

Pach

ygyr

ia.

tvh-

k@ti

thinn

iog

of

the

hem

isphe

ric

white

mdt

er

wig

I !

Dece

ased

at

2 m

(he

art

failu

re)

Left

eye

colob

oma,

polym

icrog

yria

,

agen

esis

of

the

olfac

tory

bu

lbs

Dece

ased

at 8

m

(sta

tus

cprle

pticu

s)

Micr

ocep

haly;

bilate

ral

agen

esia

of

the

olfac

tory

bu

lbs;

front

al lob

es

are

fnse

d

by m

eans

of

men

inge

s,

a sh

rimp

of

sepa

ratio

n

of

the

hem

isphe

res

is

dete

ctable

;

pach

ygyr

ia;

bilate

ral

hypo

plasia

of

th

e

parie

tal

and

occip

ital

IOkS

CaSe

se

x an

d

karym

pe

GA

GIOW

th Pm

an

d

postn

atal

data

Neuro

logica

l

exm

i”ati0

”

EEG

record

ings

Imag

ing

result

s

outco

me

Post-

mor

tem

brain

exam

inatio

n

N. 5

Fe

male

38

24

80

(10)

CS,

Apga

r sc

ore:

9 at

l’, 9

at 5’.

46,

xx

45

(5)

Good

clin

ical

cond

ition

and

gmwt

h

28.5

(<5)

du

ring

the n

eona

tal

perio

d.

N. 6

Ma

le

46,X

Y4p

40

3185

(10

) Ou

thorn,

Ap

gar

scor

e: 9

at 1’,

9 a

t

50 (

25)

5'.

Tran

sferre

d to

NICU

on

2”d

d.

31.5

(95)

beca

use

of clo

nic

jerks

. Fa

cial

dysm

otpbis

m:

micm

g”ath

ia,

high

foreh

ead,

wide

op

en

fontan

elles

,

low-se

t ea

rs, R

at roo

t of

the

nose

,

cly”&

ctyly

of the

fifth

lin

ger,

shor

t

limbs

. He

pat~g

aly,

hypx

tmpb

y

of ca

rdiac

i”te

mtlia

l se

ptmn

and

of

the v

e”tlicu

laI

walls

, tm

pr,

small

ampli

tude

trem

ors,

mult

ifoca

l clo

nic

seizu

res,

swea

ting

and

irritab

ility

episo

des

obse

rved

d”rin

g the

“em

atd

pmiod

. Iso

l&d

epilep

tic

S&IR

S (to

nic

and

clonic

jer

ks)

throu

ghou

t the

firs

t m

onths

of

life;

stahts

e@

pticu

s fm

m 8

m. C

linica

l

and

metab

olic

(incre

ased

ve

ry-lon

g-

chain

fa

tty

acids

) ind

icatio

ns

for

zellw

eger

s.

1, 3.5

, 6

m:

postu

ral

delay

,

mild

hy

petto

nia

of

the l

imbs

, po

or

intera

ctive

perfo

rman

ces

1, 3,

5, 9

m:

squin

t, bil

ateral

eyelid

pto

sis,

poor

visua

l ori

entat

ion,

neck

an

d tm

nk

hypo

tonia,

increa

sed

lib

tlexo

r by

perto

nia,

trem

ors;

no

signs

of m

ental

or

moto

r

deve

lopme

nt

8d:

lack

of m

aturat

ional

featur

es,

no n

ormal

EEG

patte

rns,

bilate

ral

low

volta

ge

fast

activ

ities

thrw

ghwt

differ

ent

beha

vioura

l

states

; iso

lated

sh

arp

wave

s in

the L

hemi

sphe

re

Durin

g the

firs

t 8

mon

ths

of life

: po

or

mahu

ation

al fea

tures

,

poor

EEG

patte

rns.

Isolat

ed

E!xi

disch

arges

at

the L

hemi

sphe

re on

two

occa

sions

.

At 9

m:

slow

back

groun

d EE

G

activ

ity

and

repeti

tive

2-2.5

Hz

spike

s slo

w

wave

s dis

charg

es

CT(I5

d)

:

mode

rate

dilata

tion

of

the s

obara

cbno

id

SpC.

3

CT (

1 m

):

occip

ital

horn

of the

latera

l ve

ntricle

s

dilate

d, co

rpus

callo

sum

hypo

plasia

8 ye

ars:

seve

re

men

tal

retard

ation

Dece

ased

at 10

m

Macro

ceph

aly

and

pach

ygyri

a, co

rpus

callo

sum

and

cereb

ellum

hypo

plasia

, dila

ted

latera

l ve

ntricle

s,

delay

ed

myeli

natio

n

Tabl

e 1

(con

rinue

d)

GP.

Wth

Pr

e-

and

Neur

ologic

al

postn

atd

data

ex

amina

tion

EEG

reco

rding

s

lmag

ing

resu

lts

Out

com

e PO

St-ll

lOIte

lIl

brain

21

ex

amina

tion

2

N. 7

Fe

mal

e

46,xX

36

26

10 (

50)

44 (

10)

31.5

(10)

Out

born

, lat

e FH

RD,

CS,

Apga

r

scor

e: 7

at

I’,

9 at

5’,

go

od

clinic

al

cond

itions

du

ring

the

neon

atal

perio

d.

Recu

rrent

cy

stopy

elitis

an

d

pneu

mon

ia in

the

first

ye

ar.

N. 8

Fe

mal

e

46,X

x 25

75

0 (S

O)

33 (5

0)

19.5

( <

5)

Solut

io pla

cent

ae,

CS,

intob

ated

at

birth

, Ap

gar

scor

e:

6 at

IO

7

at 5

’,

mec

h.

vent

ilatiw

(IP

PV

for

25

d,

CPAP

fo

r 4

d).

Incr

ease

d int

racra

nial

pres

sure

, ve

ntricu

loper

itone

al sh

unt

perfo

rmed

at

39

w.

bilate

ral

ROP

2, 3

, 5,

9 m

: m

icroc

epha

ly,

limb

flexo

r

hype

rtonia

,

impa

ired

men

tal,

mot

or

and

postu

ral

deve

lopm

ent,

evide

nce

of s

pasti

c

dipleg

ia.

1, 2

, 4.

6 m

: se

vere

ne

ck

and

trunk

hy

poto

nia.

spon

taneo

us

&bin&

i.

!!%%

SS!g

exte

nsor

lim

b

hype

rtonia

. No

visua

l or

ienta

tion.

PMA

40

w:

exce

ss

of

slow

wave

s

and

fast

acti

vities

in

state

4, LV

I in

stat

e 2.

MRI

(4

m

):

vast

oc

cipita

l

men

ingo

-

ence

phalo

cele:

hype

rinte

nsity

of

its

pare

nchy

mal

pti

in

T&we

ight

ed

imag

es

MRI

(P

MA

33

w)

hydr

anen

ceph

aly:

cere

bral

hem

isphe

res

near

ly co

mple

tely

repla

ced

by

cere

bros

pmal

lhud.

A

min

imal

po

rtion

of t

he

R fro

nto-

tem

pora

l, R

and

L oc

cipita

l lob

es

is co

nser

ved.

Th

aiam

i

and

cere

bellu

m

are

pres

ent

(Fig

. 2

a an

d h)

Lost

at th

e fo

llow-

up

at

the

age

of

II m

.

3 ye

ars:

tll%XO

-

ceph

aly.

swer

e

men

tal

reta

rdat

ion

(unt

esta

ble)

spas

tic

tetra

plegia

,

CW

sex

and

karyo

tvpe

GA

Grow

th Pm

- an

d

postn

atal

data

EEG

record

ings

Imag

ing

rewl

ts

0tltco

me

Post-

mon

em

brain

exam

inatio

n

N. 9

Ma

le

46,

XY

40

2980

(10

) Ap

gar

scor

e: 9

at I’,

9 at

5’.

49 c

m

Neon

atal

conv

ulsion

s an

d sta

tus

35 W

) ep

ilepticu

s wi

th L

hemi

conv

ulsive

focal

clonic

se

izures

un

respo

nsive

to

therap

y. Pa

rtial

R he

misp

herec

tomy

at 4

m,

no m

ore

clinica

l se

izures

,

EEG

focal

disch

arges

on

the

left

hemi

sphe

re on

ly.

3 m

:

mild

ne

ck

and

trunk

hy

poton

ia,

tonus

as

ymm

etry

(L>R

): go

od

visua

l ori

entat

ion

and

socia

l

intera

ction

2 an

d 4

w: in

terict

al

disco

ntinu

ous

EEG

and

focal

R pa

rietal

sharp

-wav

es,

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(2 w)

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of

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: wee

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: mon

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length

(pe

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th;

head

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in cm

(pe

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at bir

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Pm-an

d po

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data:

FH

RD:

fetal

heart

rat

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; CS

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mor

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8

94 F. Ferrari et al. I Early Human Development 50 (1997) 87-113

3. Method

3.1. Neurological examination

Neurological assessment was performed in the neonatal period according to the Dubowitz and Dubowitz protocol [S] during the preterm period and to the PrechtJ protocol [ 141 at term age. During the following months neurological examination was performed according to Amiel-Tison’s and Grenier’s examination protocols 121 or to an extension of Touwen’s criteria [23].

3.2. Brain imaging, EEG recording

Brain imaging was carried out in eight infants: Computed Tomography in four infants (Case 1, 2, 5, 6) and Magnetic Resonance Imaging ( I,5 Tesla) in four infants (Case 4, 7, 8, 9). One infant (Case 3) was not subjected to brain imaging study because of her severe clinical conditions; post-mortem examination revealed polymicrogyria.

All five infants who died underwent post-mortem examination. One or more EEG and/or EEG-polygraphic recordings of I h or longer were

performed in six infants. Eight active electrodes (Fpl, Fp2. C3, C4, T3, T4. 01, 02 of the international lo-20 system) were applied to the scalp. Nasal respiration (termistor), abdominal respiration (strain gauge), chin-EMG (electromyogram), limb- EMG, EOG (electrooculogram) and electrocardiogram were recorded along with the electroencephalogram. The EEG description took into accotint maturational features (e.g. temporal theta, encoches frontales, delta brushes), normal EEG patterns like TA (trace altemant), H (high voltage slow), M (mixed), LVI (low voltage irregular) at term age and specific EEG abnormalities (e.g. electrical discharges, persistent interhemispheric voltage asymmetry, absence of spatial organisation, poor interhemispheric synchrony, severely depressed EEG) [lo].

3.3. Methods of recording general movements and posture

Each infant was filmed at least once and at most 4 times during their stay in the hospital, each video recording lasting 1 h. During the video recordings the infants were lying naked and supine in an incubator or in a cot free to move and without infusion. The video camera was one metre above the incubator or cot, at an angle of 45”. Opening and closing of the eyes, crying and regularity of respiration wet-e continuously observed and verbally recorded on the audio-channel of the videotape.

Spontaneous movements were analysed from the replay of the video recordings. Occurrence and duration of the different types of movements in eight of the nine infants (Case 9 was video recorded for 15 min only) were noted on pre-coded sheets in order to produce actograms for the visual display of all events occurring during the first (or the fourth in Case 8) video recording.

Posture was assessed when the baby remained quiet for at least 5 s and a sketch was made every time a new posture was obtained; the two most frequently occurring

F. Ferrari et al. I Early Human Development 50 (1997) 87-113 95

resting postures per baby were considered. Preference postures were defined as the position of head, trunk and limbs assumed by the infant for the largest percentage of observation time [ 181. In the present study we used the term “dominant” posture when the infant displayed no more than one posture and the term “unusual” posture when the infant showed a type of posture not observed in healthy fullterm infants [5,6]. Abnormal posture during the first 3 to 4 month of life [2] were also considered as unusual.

3.4. Assessment of behavioural states

Regularity of respiration, opening or closing of the eyes, body movements, and crying were used for identification of Prechtl’s five behavioural states [13]. A 3 min moving window was employed over the four variables to indicate the onset and offset of each state. A state was present if throughout the 3 min period its configuration met all the criteria required for the sleeping states 1 and 2 or the awake states 3 to 5. If criteria for a particular state were lacking, “dissociated state” was recorded.

3.5. Quantitative assessment of spontaneous movements patterns

The quantitative assessment of spontaneous motility took into account the motor patterns observed in healthy newborn infants. The actograms of the infants of this study were compared with those observed in normal fullterm (5) and preterm infants (6).

3.6. Qualitative assessment of general movements

According to the definition [16], general movements are “gross movements involving the whole body. They may last from a few seconds to several minutes. What is particular about them is the variable sequence of arm, leg, neck and trunk movements. They wax and wane in intensity, force and speed and their onset and end are gradual. The majority of extension or flexion of arms and legs is complex, with superimposed rotations and often slight changes in direction of the movement. These additional components make the movement fluent and elegant and create the impression of complexity and variability”. In the first 4 to 5 weeks after term age GMs are called “writhing movements”, changing at the age of 6 to 9 weeks into so-called “fidgety movements” which disappear around 16 to 20 weeks. Fidgety movements are defined as an ongoing stream of small, circular and elegant movements of neck, trnnk and limbs [ 171. Fidgety movements are judged as abnormal if they are absent or if their amplitude, speed and jerkiness are moderately or greatly exaggerated.

As in previous studies [4,9,19] we assessed the quality of GMs in two steps. We first scored normal or abnormal quality of GMs on the basis of a global visual Gestalt-perception of the complexity, fluency and elegance or monotony and awkwardness of the single GM. Three major categories of abnormal GMs, described in previous papers [4,9,17,19], were distinguished as follows: 1) poor repertoire GMs:

96 F. Ferrari et al. I Early Human Development 50 (1997) 87-I I3

the sequence of successive components is monotonous and movements do not occur in the complex manner observed in normal GMs; 2) crarqed-synchronkd GMs: general movements look rigid and lack the normal smooth and fluent character; all limb and trunk muscles contract and relax almost simultaneously; 3) chaotic GMs: general movements look chaotic in their sequence.

As a second step we performed a semi-quantitative scoring of the single aspects of GMs by repeated replay of the videotape (Table 2) [9]. Eight criteria dealing with amplitude, speed, movement character, sequencing, range in space, fluency and elegance and onset and offset of gross movements, as well as with subtle distal movements are given a score of 2 for every optimal aspect while the non-optimal aspects are only given a score of 1. Hence, the optimality score ranges from a maximum of 16 to a minimum of 8 points (Table 3) [9].

This kind of evaluation cannot replace the overall judgement and needs to he carried out independently. It provides details of those components which may have changed in abnormal GM, identifying differences from the normal.

4. Results

Case 1: aueucephaly, fronto-nasal encephalucele

Video recording at 38 weeks PMA Actogram (Fig. 3 a): the state profile shows state 4 followed by state 2 and

dissociated state. No sleep cycles. Movement patterns: rare isolated arm movements, no isolated leg, hand and foot movements. Movement patterns other than GMs and sobs are rare through all behavioural states. GMs tend to occur in burst-pause patterns, GMs in sleep have a short duration.

Posture (Fig. 4 Case 1, a and b): unusual posture with neck and trunk arching, head and trunk lying on the left side (a); posture with flexed limbs is occasionally seen (b). Posture on the left side restricts the limb movements to one spatial plane. Poor posture variability.

GMs: Variable sequence and movement character from GM to GM. Onset is generally gradual, offset is dominantly sudden. Some GMs look chaotic, dominantly large, fast and abrupt; some consist of prolonged flexion-extension of the trunk, flexion-adduction of the limbs: others start with poorly organ&d and fragmented limb movements and end with frozen posture in AexionIextension of the four limbs. Various brief, convulsive episodes consist af rhythmical myoclonic jerks of the trunk and limbs (3 to 7 jerks in a row) during GMs. Global evaluation: chaotic, cramped, poor repertoire GMs, myoclonic seizures.

Optimulity score: 9 (Table 3, Case 1). Peculiar is the variety of distinct abnormal GMs observed in this severe brain

malformation: chaotic GMs, cramped-synchronized GMs and poor repertoire GMs were present at different times of the recording in the Siune infant; convulsive phenomena (myoclonic jerks) were often superimposed on GMs.


Table 2 Evaluation sheet of general movement quality

NAME: POSTMENSTRUAL AGE: Recording times (or counter no.) from

&*TE I

Tape Nr:

I R-A CYCLE i 1

I

I Amplitude

II

III

IV

V

VI

VII

Speed

Movement character

Sequencing

1.a 1.b 1s

2

Predominantly small range Predominantly large range Small and large, no intermediate range Variable in full range

1.a 1.b 1.c 1.d 2

1.a 1.b 1.c 1.d 1.e 2

1.a 1.b 1.c

1.d

1.e

2

Monotonously slow Monotonously fast Slow and fast, no intermediate Invariable Variable

Cramped PlOPPY Flapping Tremulous Poor repertoire Variable and complex

Only synchronized movements Disorganized Monotonous sequence within single GM Some body parts are not involved in the mov. Repetition of same sequence from GM to GM Variable sequence

Spatial sectors of the movements 1 Not variable 2 Variable

Fluency and elegance 1.a 1.b 2

Not fluent, no rotations Not fluent, few rotations Fluent and elegant, many rotations

Onset-offset of GMs. 1.a 1.b

2

Abrupt Minimal fluctuations in intensity Smooth crescendo and decrescendo

98 F. Ferrari et al. I Early Human Drvelopmcnt 50 (1997) 87-113

Table 2. Continued Evaluation sheet of general movement quality

VIII Subtle distal movements 1 .a l.b 1 .c

1 .d 2

Continual fisting No or rare finger movement.\ Only synchronized opening and closing finger movements Few variable finger movements Large variety of finger and hand movements (including hand rotation)

Global Evaluation: (N-A-Hypokinesia)

Date

Optima@ score: (maximal 16) Examiner

Case 2: chromosomal abnormality [de1(4)(p15.1)] and congenital asymmetrical hydrocephalus

Video recording at 43 weeks PMA Actogram (Fig. 3 b): the state profile displays state 1 and 4, no state 2 and 3. no

sleep cycles.

Fig. 1. Alobar holoprosencephaly. MR coronal MPGR 500/9/2 I,5 T image of Case 4 at 15 days: abnormal gyral configuration (pachygyria), marked thinning of the hemispheric white matter, absence of the corpus callosum and of the interhemispheric fissure, fused thalami, absence of the third ventricle and presence of a crescent-shaped holoventricle.

Tabl

e 3

Scor

es

of

the

eight

GM

cr

iteria

an

d m

otor

op

timali

ty sc

ore

in

the

nine

infa

nts

Newb

orn

PMA

SCOR

E SH

EET

PARA

METE

RS

Optim

al@

infan

ts sc

ore

I II

Ampli

tude

Spee

d

UI

Move

ment

chara

cter

IV

Sequ

encin

g

V Spa&

l

secto

rs

of the

mov

emen

ts

VI

FhW

lCY

and

elega

nce

VII

onse

t-

offse

t of

GMs

VIII

Subtl

e

distal

mov

emen

ts

Case

1

38 w

ks

1C

1C

la lb

2 la

la Id

9

Case

2 43

wks

2

la lb

Ic 2

lb 2

2 12

case

3

case

4

case

s

Case

6

Case

1

45

wks

39 w

ks

42

wks

39wk

s

43 w

ks

44 w

ks

38 w

ks

40 w

ks

49 w

ks

la la la la la Ic 2 la la

la la la lb lc Ic la la la

le

1.Z

le

le

Id la le le la-k

1C

le la IC-le

IC-le

la 1C

lc Ic-le

la

lb lb lb la la la la la

lb lb la lb la la 2 2 2

lb 8

2 9

Id 8

lb 8

Ic

8

la-k

8

Id 10

Id 9

Id

9

54 w

ks

lb la

la-le

la-k

1 la

la Id

8

Case

8

3owk

s la

la Id-

le lc-

le I

la 2

la 9

34W

kS

1C

Ic 1C

lb

I lb

lb Id

8

35 w

ks

2 2

2 2

2 lb

2 2

15

41 w

ks

lb lb

la la

1 la

la la

8

Case

9

40 w

ks

la la

le 1C

1

lb lb

lb 8

F. Ferrari et al. / Early Human Development 50 (1997) 87-113

(a) (b) Fig. 2. (a and b): Hydranencephaly. MR Axial SE 600/20/2 1,5 T images of Case 8 at 33 weeks PMA: absence of a vast portion of the cerebrum replaced by cerebrospinal fluid, presence of the thalami and residual portion of the right fronto-temporal, right and left occipital lobes.

Movement patterns: large amount of twitches and isolated arm movements in contrast with no isolated leg movements.

Posture (Fig. 4, Case 2, a and b): unusual preference postures with scoliosis of the neck and retroflexion of the head. No other postures.

GIws: monotonous repetition of extrarotations of the arms and of fragmented movements of the limbs, mainly in the horizontal plane; movements are floppy, onset-offset of GMs is gradual, amplitude, spatial sectors and subtle distal movements are variable. Global evaluation: poor repertoire GMs.

Optima&y score: 12 (Table 3, Case 2). The unusual posture and the floppy character of GMs are peculiar to this baby.

Case 3: polymicrogyria and multiple malformations

Video recording at 45 weeks PMA Actogram (Fig. 3 c): the state profile shows a brief state 2 episode followed by

alternation of state 4 and 3, no sleep cycles. Movement patterns: startles and trunk movements are not observed during the video recording.

Posture (Fig. 4, Case 3, a): unusual dominant posture with head and trunk lying on


T/i

RJ IllIll III1 II II Ill I I lllll uu II II I III III II ST I III I/ / I HF

MW HR I I y? TF

TA TR II II I I I

: I II I I II I II IIlIImIlllPI III/l I I II so II I IF 1 l I I’,,

I I I IIIII aI II II I II /

II-I I I I I /I I III II II III1 I MM Ia I II I I I I YA FC I III I /Ill I 1

Fig. 3. (a) Behavioural state profile and actogram of Case 1, GA 38 weeks, at 38 weeks of PMA (CP, change posture; SR, stretch, TM, tremulous movement; CL, clonus; TW, twitch; ST, startle; HF, head retroflexion; HR, head rotation; TF, trunk flexion; TA, trunk arching; TR, trunk rotation; IL, isolated leg movement; IA, isolated arm movement; SO, sob; IF, isolated foot movement; IH, isolated hand movement; MM, mouth movement; YA, yawn; FC, hand-face contact; SM, smile). Periods of dissociated state are indicated by interrupted lines. The horizontal axis shows time in minutes. (b) Behavioural state profile and actogram of Case 2, GA 42 weeks, at 43 weeks of PMA. (c) Behavioural state profile and actogram of Case 3, GA 41 weeks, at 45 weeks of PMA. (d) Behavioural state profile and actogram of Case 4, GA 37 weeks, at 39 weeks of PMA. (e) Behavioural state profi~e and actogram of Case 5, GA 38 weeks, at 39 weeks of PMA. (f) Behavioural state profile and actogram of Case 6, GA 40 weeks and 5 days, at 43 weeks of PMA. (g) Behavioural state profile and actogram of Case 7, GA 36 weeks, at 38 weeks of PMA. (h) Behavioural state profile and actogram of Case 8, GA 25 weeks and 3 days, at 41 weeks of PMA

102 F. Ferrari et al, I Early Human Development .li(l (1997) 87-113

5 4

STATE 3 2- 1 - GENERAL ’

MOVEMENTS - 4M n n nn - r!nrl L

SR TM CL w ST HF

MAIN HR

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STATE

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GENERAL ’ MOVEMENTS n nn nn ru-trln r-l--

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Fig. 3. (continued)

104 F. Ferrari et al. I Early Human Development 50 i1997) 87-113

STATE

GENERAL MOVEMSNTS

SR

T Tw ST I-IF

t.wN HR y;F TF

TA TR IL

:o IF IH MC YA FC SM

ll-lRnlu u -L--.

II I I I I I I

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II I II I II Ill I I i I I llill IU I ! I ii Ill I !

Ill II II I I if ! I I I I I I I

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SR TM II II II III I Ill I llil bl I /t/i ill IO/ II iii

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Fig. 3. (continued)

F. Ferrari et al. I Early Human Development 50 (1997) 87-113

106 F. Ferrari et al. / Early Human Development 50 (1997) 87-113

the right side, flexed limbs, extension of neck and trunk. Limb movements are limited to the horizontal plane.

GMs: predominantly slow and small amphtude movements, repetition of the same movement sequence. Global evaluation: marked poor repertoire GMs.

Optimality score: 8 (Table 3, Case 3). Body posture is peculiar; monotony of the motor sequencing is the main feature oi

GM quality.

Case 4: holopmsencephaly

Video recording at 39 weeks PMA Actogram (Fig. 3 d): the state profile shows a long phase of state 1 and dissociated

state followed by state 4 and 3. No state 2 episodes and no sleep cycles. Movement patterns: no trunk movements, no isolated hand and foot movements.

Posture (Fig. 4, Case 4, 39 weeks, a and b): preference posrures with flexed or semiflexed limbs. Poor posture variability.

GMs: repetition of small amplitude head movements, elegant wrist rotations, hand face contact. Global evaluation: Poor repertoire GMs.

Optimality score: 9 (Table 3, Case 4, 39 weeks). No posture and movement peculiarities, extreme monotony of the movement

sequence.

Video recording at 42 weeks PMA Posture: (Fig. 4, case 4, 42 weeks, a): dominant ATN posture. GMs: stereotyped pedalling, frequent asymmetric tonic neck (ATN) posture during

GM, abrupt, synchronous, stereotyped, short-lasting limb movements. Limb movements, small in amplitude, similar to myoclonic jerks. Tremors are often superimposed on limb movements. Global evaluation: marked poor repertoire GMs.

Optima&y score: 8 (Table 3, Case 4, 42 weeks). Small, synchronous movements of the limbs, similar to myoclonic jerks and no

trunk movements are unusual and peculiar features.

Case 5: congenital microcephaly

Video recording at 39 week PMA Actogram (Fig. 3 e): the state profile shows all 5 behavioural states, predominance

of state 4, no sleep cycles. Movement patterns: no twitches, startles, cloni. tremors, trunk, isolated foot and isolated hand movements. Many hand-face-contact movements in contrast to a lack of subtle distal movements.

Posture (Fig. 4, Case 5, a and b): unusual postures with head and trunk lying on the left side, flexed upper and flexed or extended lower limbs. No other postures. Limb movements are limited to the horizontal plane.

GMs: stereotyped adduction-abduction of the forearms, repetitive rowing and pedalling movements, no wrist rotations, poor trunk movements, abrupt and jerky


head rotations, no fluency or elegance, monotonous sequencing. Crying does not change the movement patterns. Global evaluation: Poor repertoire GMs,

Optimality score: 8 (Table 3, Case 5). Continual ongoing of GMs, stereotypy of the movement sequence within single

GM and from GM to GM and a limited repertoire of the movement patterns are the main features of the motor activity.

Case 6: macrocephaly

Video recording at 43 weeks PMA Actogram (Fig. 3 f): the state profile shows periodical transitions from wakefulness

to sleep (state 1 or 2) and again from sleep to wakefulness without a single sleep cycle. Movements, and GMs in particular, tend to occur in burst-pause patterns rather than being scattered over the record.

Movements patterns: cloni, trunk movements and isolated hand movements are not observed.

Posture (Fig. 4, Case 6, 43 weeks, a and b): unusual postures with flexed wrists and elbows. Poor posture variability.

GMs: brisk and synchronous onset of GMs, low threshold to Moro response, tremors during GM, no trunk movements, brisk head rotations, synchronous opening of the hands, dominantly slow, small range limb movements, frozen posture in extension of the lower limbs. Global evaluation: marked poor repertoire GMs.

Optima& score: 8 (Table 3, Case 6). Flexed posture of the wrists is peculiar; monotonous sequencing of the limb

movements and brisk head rotations are the main features of the motor activity.

Video recording at 44 weeks PMA Posture (Fig. 4, Case 6, 44 weeks, a and b): unusual postures with wrists still

flexed, full extension of the legs. Poor posture variability. GMs: few tremors, cramped-synchronized GMs with tremors superimposed, poor

trunk movements, frozen posture in extensions of the lower limbs, opening of the mouth synchronous to limb movements, no finger movements. Global evaluation: cramped-synchronized GMs.

OptimaEizy score: 8 (Table 3, Case 6).

Case 7: parieto-occipital encephalocele

Video recording at 38 weeks PMA Actogram (Fig. 3 g): state profile presents state 4 and 3, no sleep states. Movements patterns: GMs are so close to each other that they can hardly be

distinguished; as regards other movement patterns, head rotation, trunk movements, tremors and cloni were not observed.

Posture (Fig. 4, Case 7, 38 weeks, a and b): preference postures with head fixed to the right side because of the big parietal-occipital encephalocele. Poor posture variability.


GMs: variable amplitude, smooth crescendo and decrescendo, monotonously slow speed, monotonous sequence within single GM and from GM to GM, slow flexion of the lower limbs. Global evaluation: poor repertoire GMs.

Optimality Score: 10 (Table 3, Case 7, 38 weeks).

Video recording at 40 weeks PMA Posture (Fig. 4, Case 7, 40 weeks, a and b): ATN preference postures. GMs: look similar to the previous recording with a more limited motor repertoire

and consistent monotony of the sequencing. Global evaluation: poor repertoire GMs. Optima&y score: 9 (Table 3, Case 7, 40 weeks).

Video recording at 49 weeks PMA Posture (Fig. 4, Case 7, 49 weeks, a and b): preference postures with ATN and

reverse ATN posture. Poor posture variability. GMs: cramped movements of the upper limbs, no fidgety movements, repetition of

the same motor sequence. Global evaluation: poor repertoire GMs with some cramped movements of the upper limbs.

Optimality score: 9 (Table 3, Case 7, 49 weeks).

Video recording at 54 weeks PMA Posture (Fig. 4, Case 7, 54 weeks, a): unusual dominant posture with head

retroflexion, trunk arching, no more ATN posture. Head position affects the sequence and the variability of the movements.

GMs: no fidgety movements, no hand-hand contact, no foot-foot contact, pool repertoire and synchronized movements. Global evaluation: synchronized movement< of all four limbs; lacking fidgety movements.

Optimality score: 8 (Table 3, Case 7, 54 weeks). Monotony of the movement sequence (poor repertoire GMs) in the first three video

recordings and the cramped-synchronized character at 54 weeks PMA are the main features: body and limbs posture is affected by the fixed position of the head.

Case 8: hydranencephaly

Video recording at 30 weeks PMA Posture (Fig. 4, Case 8, 30 weeks, a and b): preference postures with flexed or

semiflexed limbs, poor posture variability. GMs: very short and poorly differentiated GMs, stereotyped sequencing from GM

to GM, myoclonic jerks of the limbs. Global evaluation: marked poor repertoire GMs. Optima& score: 9 (Table 3, Case 8, 30 weeks).

Video recording at 34 weeks PMA Posture (Fig. 4, Case 8, 34 weeks, a and b): ATN preference postures, poor posture

variability. GMs: flapping and chaotic GMs, poor postural control. ATN posture, rhythmical

F. Ferrari et al. 1 Early Human Development 50 (1997) 87-113 109

tongue protrusion and mouthing, no fluency and elegance. Global evaluation: chaotic GMs.

Optima&y score: 8 (Table 3, Case 8, 34 weeks).

Video recording at 35 weeks PMA Posture (Fig. 4, Case 8, 35 weeks, a and b): preference postures with flexed limbs. GMs: variable amplitude, speed, movement character, sequencing, and spatial

sectors; smooth onset-offset; variety of subtle distal movements; lacking elegance and fluency. Global evaluation: abnormal GM quality because of lack of fluency and elegance, quality of GMs is markedly improved compared to the previous recordings.

Optimal@ score: 15 (Table 3, Case 8, 35 weeks).

Video recording at 41 weeks PMA Actogram (Fig. 3 h): the state profile identifies one short state 1, preceded and

followed by wakefulness and crying, no sleep cycles. Movement patterns: isolated leg, arm, foot and hand movements are not seen.

Posture (Fig. 4, Case 8, 41 weeks, a and b): unusual preference postures with head retroflexion and trunk arching. Limb movements take place predominantly in the horizontal plane. No other resting postures.

GMs: small amplitude, slow, forceful, synchronized GMs, synchronous opening and spreading of the fingers, fast small amplitude tremors. Global evaluation: cramped-synchronized GMs.

Optima&y score: 8 (Table 3, Case 8, 41 weeks). A change in quality of GMs is seen throughout the successive four video

recordings: initial poor repertoire GMs at 30 weeks are followed by chaotic GMs at 34 weeks and by a surprising (and to our knowledge inexplicable) improvement of GM quality at 35 weeks; a major motor abnormality, the cramped-synchronized character, appears at 41 weeks PMA.

Case 9: hemimegaluencephaly

Video recording at 40 weeks PMA No actogram was performed as the video recording was too short. Posture (Fig. 4, Case 9, a and b): two preference postures, poor posture variability. GMs: during 15 mm of video recording the newborn shows two brief GMs in state

4; amplitude is monotonously small, speed is monotonously slow, poor sequence within single GM and from GM to GM. Movements are fluent but not elegant. No clear asymmetry in posture and movement. Global evaluation: poor repertoire GMs.

Optima& score: 8 (Table 3, Case 9). The repetition of slow and small amplitude limb movements and the monotony of

the motor sequence are the dominant features. No asymmetry in posture and movement was detected despite the brain malformation being limited to the right brain hemisphere.

110 F. Ferrari et al. / Early Human Development 50 (‘1991) 87-113

4.1. Quantitative abnomurlities of movement patterns

With respect to the quantitative abnormalities, six of the eight babies who were observed with 1 h video recording lacked one (5 Cases) or two (I Case) movement patterns usually present in normal healthy newborn infants. The missing patterns were isolated leg and/or isolated arm movements in three infants, startles in two infants, twitches and head rotation in another two infants. Among the so-called inconsistently occurring movement patterns (they may be present or absent even in normal infantsj trunk movements (5 Cases), isolated foot and/or isolated hand movements (4 Cases) and cloni (2 Cases) were not observed in our study group. ‘The combination of several movement patterns differed from infant to infant: the anencephalic newborn infant lacked isolated movements of arms, legs, hands and fee:; Case 3, polymicrogyria, lacked startles and trunk movements; Case 4, holoprosencephaly, lacked trunk and isolated hand movements, Case 5, congenital microcephaly, lacked startles, twitche%. cloni, tremors, trunk movements and isolated hand and foot movements; Case 6. pachygyria (Zellweger syndrome), lacked cloni and isolated hand and trunk movements; Case 7, parieto-occipital encephalocele, lacked head rotations, trunk movements, tremors and cloni; Case 8, hydranencephaly, lacked isolated arm, leg, hand and foot movements.

4.2. Qualitative abnormalities of general movements

These distinct brain malformations were accompanied by a variety of motor abnormalities: chaotic and cramped-synchronized GMs in anencephaly, floppy movements in congenital hydrocephalus, slow, small amplitude movements in polymicrogyria, small, synchronous, jerky movements of the limbs in holoprosencephaly; stereotyped adduction-abduction of the forearms and abrupt head rotations in microcephaly; brisk and tremulous limb movements and brisk head rotations in macrocephaly (Zellweger syndrome); monotonous repetition of slow, small amplitude limb movements in hemimegaloencephaly; persistent monotony, throughout the first three videorecordings, of the movement sequence in parieto-occipital encephalocele.

Quality of GMs of infant with hydranencephaly changed dramatically throughout the successive observations: very short and poorly differentiated, monotonous GMs at 30 weeks PMA, flapping and chaotic GMs at 34 weeks PMA, variable GMs at 35 weeks, cramped-synchronized GMs at 41 weeks. The difference in quality from one recording to the next was striking, as well as the transient improvement of GM5 quality at 35 weeks: we could not find a reasonable explanation for them.

5. Discussion

As expected, infants affected by severe brain malformations exhibited abnormalities of posture and of movements. The preference resting posture varied from infant to infant, but in all cases was less variable than in normal newborn infants. An unusual posture, not seen in healthy full-term infants 151. was observed in seven out


of the nine infants. A dominant posture was present in three infants (Cases 3, 4 and 7): in these three infants, as well as in two others (Case 1 and 5), who were laying on one side, posture had a clear influence on limb movements.

In 8 out of the 9 Cases, 1 h video recording enabled us to establish a behavioural state profile and assess the infant’s state organisation. In all cases, sleep organisation was very poor: sleep cycles as such were absent in all infants; six out of the eight displayed excessive wakefulness; one of the two sleep states was absent in 4 cases; the only sleep observed in one infant was a dissociated state. These findings fully agree with previous findings by Monod and Guidasci [12] who described newborn babies with brain malformations as poor sleepers, with high percentage of wakefulness, no or poor sleep cycles.

The sequence of occurrence of GMs was clearly abnormal in two infants, one being affected by anencephaly and the other by pachygyria and cerebellum hypo- plasia: GMs occurred in burst-pause patterns instead of being scattered over the recording. Similar findings were observed by Visser et al. [24] in 6 of the 8 anencephalic fetuses observed with ultrasound in utero.

Abnormality is expressed in quantity and quality of spontaneous motor activity. Once again, as in previous studies on fetuses and on newborn infants with brain

impairment [9,20,24], qualitative changes in spontaneous movement prevailed over quantitative ones.

As for the quantitative abnormalities of spontaneous movements, they consisted in the lack of one or more movement patterns but no relationship was observed between defective movement patterns (or their combination) and specific brain abnormalities.

Turning from the quantitative to the qualitative aspects of spontaneous movements, with specific reference to GMs, we set out to discover whether the absence of certain parts of the brain might have a direct influence on GM quality.

It is known from the pioneering work of de Vries et al. [7] that GMs appear very early (weeks 8-9) in fetal life, when they are slow and of limited amplitude. Later on, at lo-12 weeks, GMs become more forceful but are smooth in appearance and of large amplitude. After 12 weeks, GMs become more variable in speed and amplitude; there are no major changes in their appearance between 8 and 20 weeks. Considering the second half of pregnancy, Roodenburg et al. [21] have shown that the same holds true. Cioni and Prechtl [6] have demonstrated in preterm infants that GMs between 28 weeks and term age change very little. In other words, we know that most of the qualitative features of GMs are already present during the 4’h-5’h month of gestation, with minor changes occurring in the last trimester of pregnancy (see Prechtl, 1989 [15] for review).

We can suppose that the generating neural network responsible for GMs could be primarily located in the brain stem and spinal cord, higher structures of the brain playing a more subtle role in modulating quality and, perhaps, time patterning of the different movement patterns.

The present study failed to find any connection between the absence of a specific part of the brain and GM abnormalities, or between the quantity of defective brain tissue and the degree of GM abnormalities. Anencephaly and hydmnencephaly were the two cases with most defective brain tissue, yet GM abnormalities were no worse,


in terms of GM quality, than in microcephaly, holoprosencephaly and other brain malformations where there was less defective brain tissue.

Brain malformations in our study differed greatly from each other as regards type and severity of CNS malformation. The cerebral cortex, cerebral hemispheres. s&cortical and periventricular zones, cerebellum and corpus callosum were affected to a greater or lesser extent in individual infants, whereas the brain stem and spinal cord appeared less affected or even intact but, of course, without the normal input from the higher centres.

These distinct brain malformations were accompanied by a variety of motor abnormalities. This is why we felt the need to describe in detail spontaneous motor activity case by case. No infant displayed GMs identical or similar to those of other infants: each newborn infant had a sort of a personal movement “style” that was easily recognizable. This was true in all infants with the exception of the anenceph- alit infant, who displayed different types of abnormal GMs during the same recording: poor repertoire GMs, cramped-synchronized GMs and chaotic GMs. Similarities were also present and deserve mentioning along with individual differences. All our infants displayed poor repertoire GMs or marked poor repertoire GMs. Poor repertoire is characterised by monotony and lack of complexity of the sequence of successive movement components. From previous studier; on GMs of preterm and term infants affected by brain lesions of perinatal origin, i.e. intraventricular- periventricular haemorrhages and/or periventricular leukomalacia in preterm infants [4,9] and hypoxic-ischaemic lesions in full-term infants [4,19], we know that poor repertoire GMs is the most common motor abnormality. It is a sign of minor brain dysfunction when it is transient and disappears during the first months of life. However, it may be a sign of severe brain impairment when it is consistent or followed by severe motor abnormality like cramped-synchronized GMs, as in our case studies. Of the four infants with more than one video recording, three displayed poor repertoire GMs followed by cramped-synchronized GMs or, in one case (Case 4), by marked poor repertoire GM. These data once aga.in suggest the need for longitudinal observations.

The repetition of the same sequence within a single GM and from GM to GM wa\ a common feature of the brain-malformed infants of this study.

The putative role of upper structures in modulating GM quality seems confirmed by these clinical observations: one of the main features of normal GMs, along with fluency, elegance and complexity is variability. GMs are variable when. along with continuous changes in speed, force, amplitude and spaciai sectors, the sequence of the different body parts involved in movement changes within the single GM and from GM to GM. This did not occur in the infants of the present study.

Acknowledgements

The authors are grateful to Prof. Trentini and his co-workers who performed the post-mortem examinations, to Dr. Mavilla and Dr. Siotini for description of the CT and MRI findings and to Luca Ori who performed the EEG-polygraphic recordings in Modena.


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